Cell Signalling Biology

This major contribution to the field of cell signalling by one of the world's leading experts, Professor Sir Michael Berridge (Cambridge) is now sponsored by the Biochemical Journal's Signal Knowledge Environment ensuring online access is freely available to all.

Cell Signalling Biology provides researchers, teachers and students alike with an outstanding online resource describing the biology of cell signalling.

"A fantastic resource for educators and researchers alike, and for anyone interested in the basics and details of cell signalling pathways. The diagrams are particularly useful as teaching tools, I highly recommend this to anyone engaged in signalling research".
Alex Toker, Harvard Medical School, Boston.

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Contents

1 Introduction The aim of this website is to describe cell signalling within its biological context. There has been an explosion in the characterization of signalling components and pathways. The next major challenge is to understand how cells exploit this large signalling toolkit to assemble the specific signalling pathways they require to communicate with each other.
	Introduction  Overview of cell signalling mechanisms  Communication through electrical signals  Communication through chemical signals ON mechanisms Cell stimuli Cytokines Receptors Transducers and amplifiers Intracellular messengers Sensors and effectors OFF mechanisms  Information transfer mechanisms Conformational-coupling mechanisms Post-translational modifications Protein methylation Sumoylation Ubiquitination Ubiquitin signalling system Protein degradation DNA methylation Desensitization of cell signalling Spatial and temporal aspects of cell signalling Signalsome  References for Module 1
2 Cell signalling pathways Cells use a large number of clearly defined signalling pathways to regulate their activity. This module focusses on the ON mechanisms responsible for transmitting information into the cell.
	Synopsis  Intracellular signalling pathways  Cyclic AMP signalling pathway Cyclic AMP formation Adenylyl cyclase (AC) Cyclic AMP signalling effectors Protein kinase A (PKA) Exchange proteins activated by cyclic AMP (EPACs) Cyclic AMP signalling functions Cyclic AMP hydrolysis Cyclic AMP efflux  GTP-binding proteins Heterotrimeric G proteins Monomeric G proteins  Ca2+ signalling Basic mechanism of Ca2+ signalling Ca2+ signalling signalsome Ca2+ signalling modules Ca2+ ON reactions Ca2+-induced Ca2+ release (CICR) Ca2+ OFF reactions Ca2+ buffers Ca2+ signalling function Spatiotemporal aspects of Ca2+ signalling  Cyclic ADP-ribose (cADPR) signalling cADPR working hypothesis cADPR generation and metabolism cADPR control of Ca2+ release cADPR and cell regulation  Nicotinic acid–adenine dinucleotide phosphate (NAADP) signalling NAADP generation and metabolism NAADP control of Ca2+ release  Phosphoinositide signalling Phosphoinositide metabolism Inositol lipid metabolism Inositol lipid kinases Inositol lipid phosphatases Inositol phosphate metabolism Inositol 1,4,5-trisphosphate (InsP3)/Ca2+ signalling cassette Phospholipase C (PLC) Diacylglycerol (DAG)/protein kinase C (PKC) signalling cassette Protein kinase C (PKC) Phosphoinositide lipid signalling molecules PtdIns4,5P2 signalling cassette PtdIns 3-kinase signalling Insulin receptor Multipurpose inositol polyphosphate signalling pathway Nitric oxide (NO)/cyclic GMP signalling pathway Cyclic GMP signalling pathway Reactive nitrogen species (RNS) signalling Redox signalling Reactive oxygen species (ROS) signalling Thioredoxin (Trx) Thioredoxin reductase (TrxR) Glutathione reductase Oxidation-sensitive processes Redox signalling in proliferation and cancer Redox signalling in apoptosis Redox signalling and DNA damage Redox signalling in vascular homoeostasis Redox signalling and gene transcription Redox factor 1 (Ref-1) Redox signalling and modulation of Ca2+ signalling  Mitogen-activated protein kinase (MAPK) signalling Overview Mitogen-activated protein kinase (MAPK) signalling toolkit Extracellular-signal-regulated kinase (ERK) pathway c-Jun N-terminal kinase (JNK) pathway Apoptosis signal-regulating kinase 1 (ASK1) Sprouty (SPRY) p38 pathway Mitogen-activated protein kinase (MAPK) signalling properties  Nuclear factor κB (NF-κB) signalling pathway Nuclear factor κB (NF-κB) signalling toolkit Tumour necrosis factor α (TNFα) signalling pathway Toll receptor signalling pathway  Phospholipase D (PLD) signalling pathway Phospholipase D (PLD) activation Phosphatidic acid (PA) action Phosphatidic acid (PA) metabolism  Sphingomyelin signalling pathway Generation and function of ceramide and sphingosine 1-phosphate (S1P) Sphingosine 1-phosphate (S1P) Ceramide  Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signalling pathway Janus kinase (JAK)/signal transducer and activator of transcription (STAT) structure Signal transducer and activator of transcription (STAT) activation cascade Suppressor of cytokine signalling proteins (SOCS) Janus kinase (JAK)/signal transducer and activator of transcription (STAT) function in growth and development  Smad signalling pathway Smad signalling toolkit Domain structure of the Smad family Smad signalling mechanism Transforming growth factor β (TGF-β) receptor activation Smad activation of transcription Modulation of Smad signalling Transforming growth factor β (TGF-β) inhibition of cell proliferation  Wnt signalling pathways Wnts Canonical Wnt/β-catenin pathway Wnt/planar cell polarity (PCP) pathway Wnt/Ca2+ signalling pathway Casein kinase I (CKI) Casein kinase II (CK2)  Hedgehog signalling pathway Hedgehog signalling toolkit Hedgehog activation of transcription Hedgehog signalling functions  Hippo signalling pathway Mammalian sterile-20-like kinase type 1 (MST1) Large tumour suppressor (Lats) Yes-associated protein (YAP) Transcriptional coactivator with PDZ binding motif (TAZ)  Notch signalling pathway Modulation of Notch signalling  Endoplasmic reticulum (ER) stress signalling Unfolded protein response (UPR) Endoplasmic reticulum (ER) overload response (EOR) Activation of apoptosis  Metabolic messengers  AMP signalling pathway Adenosine monophosphate (AMP) AMP-activated protein kinase (AMPK) Adenosine triphosphate (ATP) Bicarbonate (HCO3−) Fatty acids NAD signalling pathways Sterol sensing and cholesterol biosynthesis  References for Module 2
3 Ion channels Ion channels have two main signalling functions: either they can generate second messengers or they can function as effectors by responding to such messengers.
	Synopsis  Ca2+ entry channels Voltage-operated channels (VOCs)  Voltage-operated channel (VOC) terminology and classification Voltage-operated channel (VOC) structure Voltage-operated channel (VOC)-associated subunits Voltage-operated channel (VOC) properties Voltage-operated channel (VOC) distribution and function  CaV1 family of L-type channels CaV1.1 L-type channel Modulation of the CaV1.1 L-type channel CaV1.2 L-type channel CaV2 family of N-type, P/Q-type and R-type channels CaV3 family of T-type channels  Agonist-operated channels (AOCs) Receptor-operated channels (ROCs) Cysteine-loop receptors Structure and function of nicotinic acetylcholine receptors (nAChRs) Glutamate receptors Second messenger-operated channels (SMOCs) Arachidonic acid-regulated Ca2+ (ARC) channel Store-operated channels (SOCs)  Transient receptor potential (TRP) ion channel family Structural organization of the transient receptor potential (TRP) ion channel family Canonical transient receptor potential (TRPC) family Vanilloid transient receptor potential (TRPV) family Melastatin-related transient receptor potential (TRPM) family Mucolipin transient receptor potential (TRPML) family TRPML1 TRPA1 Temperature sensing Polycystins Gap junctions Hemichannels  Mechanotransduction  Mechanosensitive channels Piezo  K+ channels Voltage-dependent K+ (Kv) channels K+ channel auxiliary subunits Inward rectifier K+ (Kir) channels Two-pore domain potassium channels (K2P) Ca2+-sensitive K+ channels K+ channel structure Large-conductance (BK) channel opening Intermediate-conductance (IK) and small-conductance (SK) channel opening G protein-gated inwardly rectifying K+ (GIRK) channels ATP-sensitive K+ (KATP) channels Hyperpolarizing-activated cyclic nucleotide-gated (HCN) channels  Chloride channels and transporters Ca2+-sensitive Cl− channels (CLCAs) CLC chloride channels and transporters  ATP-binding cassette (ABC) transporters ABCA1 ABCA2 ABCA3 ABCA4 ABCB4 ABCC1 ABCC2 ABCC4 ABCC7 ABCC8 ABCD1 ABCG5 ABCG8 Cystic fibrosis transmembrane conductance regulator (CFTR)  Cation-chloride cotransporters Na+-K+-2Cl− cotransporter 1 (NKCC1) Na+-K+-2Cl− cotransporter 2 (NKCC2) Na+-Cl− cotransporter (NCC) K+-Cl− cotransporter 1 (KCC1) K+-Cl− cotransporter 2 (KCC2) K+-Cl− cotransporter 3 (KCC3) K+-Cl− cotransporter 4 (KCC4)  WNK protein kinase WNK1 WNK2 WNK3 WNK4  Cell volume regulation  Aquaporins  Ca2+ release channels Ryanodine receptors (RYRs) Inositol 1,4,5-trisphosphate receptors (InsP3Rs) Luminal regulation of Ca2+ release channels Junctophilin (JP)  References for Module 3
4 Sensors and effectors Signalling pathways regulate cellular processes by acting through sensors to stimulate the downstream effectors that are responsible for controlling different cellular processes.
	Synopsis  Sensors  Ca2+ sensors Calmodulin (CaM) Troponin C (TnC) Neuronal Ca2+ sensor (NCS) proteins Ca2+-binding proteins (CaBPs) Calcium and integrin binding protein 1 (CIB1) Annexins S100 proteins Synaptotagmins  Effectors Ca2+ effectors Phosphorylase kinase Myosin light chain kinase (MLCK) Calcineurin (CaN)  Membrane and protein trafficking Endoplasmic reticulum/Golgi transport mechanisms Golgi sorting and protein packaging Golgi to plasma membrane transfer Exocytosis  Endocytosis Clathrin-mediated endocytosis (CME) Control of endocytosis Phagocytosis  Endosome vesicle fusion to early endosomes  Early endosome protein sorting and intraluminal vesicle formation  Early endosome to plasma membrane trafficking  Early endosome to trans-Golgi network (TGN) trafficking Sorting nexins (SNXs)  Early endosome maturation to lysosomes  Motor proteins Myosin Kinesin Kinesin motor regulation Dynein  Gene transcription Transcription factors Transcriptional co-regulators Transcription factor classification Transcription factor activation mechanisms Gene silencing Ubiquitin signalling and gene transcription Developmentally regulated transcription factors Nuclear receptors Hepatocyte nuclear factor 4α (HNF4α) Internal signal-dependent transcription factors  Cell-surface receptor-dependent transcription factors Activation of transcription by cytosolic signals APP intracellular domain (AICD) β-Catenin as a transcription factor Interferon-regulatory factors (IFRs) LBP1 family of transcription factors c-Maf Signal transducers and activators of transcription (STATs) Notch intracellular domain (NICD) Nuclear factor of activated T cells (NFAT) Nuclear factor κB (NF-κB) Single-minded 1(Sim1) Smads Activation of transcription by nuclear signals Activation of transcription factors by regulating their expression  MicroRNA (miRNA) MicroRNA biogenesis MicroRNA properties and function  Signalsome stability  Ciliary beating Primary cilium  Actin remodelling Wiskott–Aldrich syndrome protein (WASP) Wiskott–Aldrich syndrome protein (WASP) verprolin homologous (WAVE) Actin-related protein 2/3 complex (Arp2/3 complex) Ena/vasodilator-stimulated phosphoprotein (VASP) family  References for Module 4
5 Off mechanisms Signalling pathways are composed of the ON mechanisms that generate internal signals and the OFF mechanisms that remove these signals as cells recover from stimulation.
	Synopsis  Protein phosphatases Protein tyrosine phosphatases (PTPs) Protein serine/threonine phosphatases  Phosphodiesterase (PDE) PDE1 PDE2 PDE3 PDE4 PDE5 PDE6  Ca2+ pumps and exchangers Pump classification Properties of Ca2+ pumps Organization and distribution of Ca2+ pumps  Mitochondria Generation of ATP Mitochondrial Ca2+ uptake Mitochondrial Ca2+ release Endoplasmic reticulum (ER)/mitochondrial Ca2+ shuttle Mitochondrial permeability transition pore (MTP) Mitochondrial modulation of Ca2+ signals Ca2+ modulation of mitochondrial function Mitochondrial motility  References for Module 5
6 Spatial and temporal aspects of signalling The function and efficiency of cell signalling pathways are very dependent on their organization both in space and time. With regard to spatial organization, signalling components are highly organized with respect to their cellular location and how they transmit information from one region of the cell to another.
	Synopsis    Spatial organization of signalling pathways Signal transduction domains Scaffolding/targeting proteins Macromolecular signalling complexes  Lipid rafts and caveolae Lipid composition of rafts and caveolae Caveolae structure Signalling function of caveolae  Cadherins Classical cadherins Catenins Desmosomal cadherins Protocadherins Atypical cadherins  Cell adhesion complexes Focal adhesion complex Focal adhesion actin attachment Focal adhesion integrin signalling Podosome  Local and global aspects of signalling Elementary and global aspects of Ca2+ signalling Cyclic AMP microdomains Reactive oxygen species (ROS) microdomains  Temporal aspects of signalling Cellular oscillators Brain rhythm Network oscillators Membrane oscillators Cytosolic oscillators  References for Module 6
7 Cellular processes Signalling pathways use different messenger systems acting through specific sensors and effectors to control a great variety of cell types
	Synopsis  Mammalian cell types  Metabolic energy network Control of food intake and body weight  Glial cells  Astrocytes Astrocyte structure Spatial buffering of K+ by astrocytes Neuronal–astrocyte communication Astrocyte–neuronal communication Astrocyte excitability Astrocyte regulation of cerebral blood flow  Satellite glial cells Microglia  Endothelial cells Endothelial regulation of paracellular permeability  Skeletal muscle Skeletal muscle structure Excitation–contraction (E-C) coupling in skeletal muscle Excitation–metabolism coupling in skeletal muscle Insulin control of skeletal muscle glycogen synthesis  Cardiac cells Sinoatrial node pacemaker cells Ventricular cells Atrial cells  Smooth muscle cells Smooth muscle cell structure Smooth muscle cell excitation–contraction coupling Smooth muscle Ca2+ signalling Smooth muscle Rho/Rho kinase signalling Smooth muscle cell relaxation Nitric oxide (NO)/cyclic GMP and smooth muscle relaxation Smooth muscle cell Ca2+ sparks Smooth muscle activation mechanisms Vas deferens Uterine smooth muscle cells Detrusor smooth muscle cell Ureter smooth muscle cell Airway smooth muscle cells Vascular smooth muscle cells Smooth muscle cell cytosolic oscillator Myogenic vasoconstriction Corpus cavernosum smooth muscle cells Gastrointestinal smooth muscle cells Urethral smooth muscle cells Interstitial cells of Cajal Phase wave  Ca2+ homoeostasis Hormonal regulation of Ca2+ homoeostasis Ca2+ reabsorption by the intestine  Bone Bone remodelling Osteoblasts Osteocytes Osteoclasts Bone cell coupling  Chondrocytes  Skin Epidermis Keratinocytes Dermis Hair follicle Arrector pilli muscle Sebaceous gland Sweat gland Melanocytes  Alimentary canal Stomach X/A-like cell Parietal cell Small intestine Colon  Kidney Blood Na+ regulation Blood pressure Kidney structure Juxtaglomerular apparatus (JGA) Urine formation  Salivary gland Salivary gland structure Salivary gland control mechanisms  Exocrine pancreas Exocrine pancreatic acinar cells Acetylcholine-induced pancreatic secretion Cholecystokinin (CCK)-induced pancreatic secretion Exocrine pancreatic centroacinar cells  Liver cells Regulation of glucose metabolism Hepatic stellate cell  Adrenal gland Adrenal cortex Adrenal medulla  Insulin-secreting β-cells Islets of Langerhans Insulin release and biosynthesis  Glucagon-secreting α-cells  Airway epithelial cells  White fat cells  Brown fat cells Uncoupling proteins  References for Module 7
8 Development Development encompasses the programme of events that begins with fertilization and culminates in complex multicellular organisms like ourselves.
	Synopsis  Maturation Spermatozoan maturation Oocyte maturation  Fertilization Sperm motility and chemotaxis Acrosome reaction Sperm-induced oocyte activation Completion of meiosis at fertilization  Cell specification Ca2+ in embryonic development Dorsoventral specification Left–right asymmetry Planar cell polarity (PCP)  Differentiation Proliferation–differentiation switch Epithelial-to-mesenchymal transition (EMT) Mesenchymal-to-epithelial transition (MET) Signalsome expression  Stem cells Embryonic stem cells Adult stem cells Stem cell niche  Satellite cells  Skin development Hair follicle cycle Skin regeneration and repair Epidermal stem cells Melanocyte stem cells Haematopoietic stem cell (HSC) HSC anchorage Intestinal stem cells Mesenchymal stem cell (MSC) Differentiation of bone cells Differentiation of B-cells Differentiation of intestinal cells Differentiation of skeletal muscle Differentiation of cardiac cells Differentiation of keratinocytes Differentiation of smooth muscle Differentiation of neurons Differentiation of white fat cells Differentiation of brown fat cells  De-differentiation  References for Module 8
9 Cell cycle and proliferation Cell proliferation is the process whereby cells reproduce themselves by growing and then dividing into two equal copies. Growth factors employ a range of growth factor signalling pathways to activate cells to enter the cell cycle.
	Synopsis  Cell cycle  Cell cycle events Prophase Prometaphase Metaphase Anaphase Telophase  Cell cycle toolkit  Cell cycle network  Growth factor signalling/cell cycle interface  Cell cycle signalling Cyclin D/cyclin-dependent kinase 4 (CDK4) activation Cyclin B/cyclin-dependent kinase 1 (CDK1) activation Cyclin D controls G1 progression Cyclin E controls G1 progression and DNA synthesis Cyclin A control of DNA synthesis Cyclin B/cyclin-dependent kinase 1 (CDK1) controls mitosis  Cytokinesis Assembly and activation of a spindle midzone complex Assembly of the actomyosin contractile ring Activation of contraction Trafficking and insertion of membrane vesicles  Cyclin-dependent kinase (CDK)-activating kinase (CAK)  Polo-like kinases (Plks)  Cyclin-dependent kinase (CDK) inhibitors  Pocket proteins  E2F family of transcription factors  DNA damage and checkpoint signalling DNA damage Checkpoint signalling  Cell proliferation  Information flow during proliferative signalling  Growth factor signalling pathways K+ channels and cell proliferation  Cell growth control  Tuberous sclerosis complex 1 and 2 (TSC1/2)  Target of rapamycin (TOR)  Proliferation of specific cell types  Lymphocyte activation T cell activation T cell chemotaxis T cell cytoskeletal reorganization Immunological synapse T cell receptor (TCR) signalling Interleukin-2 (IL-2) signalling pathway B cell activation  References for Module 9
10 Neuronal signalling The central nervous system contains approximately one trillion (1012) neurons that are connected to each other to form neural circuits of bewildering complexity.
	Synopsis  Brain regions Cortex Thalamus  Neural circuits Cerebellum  Limbic system Hippocampus  Neurogenesis  Neuronal morphology Spines Postsynaptic density (PSD) Neuronal endoplasmic reticulum Dendrites Soma Axons Synaptic endings Neuron-within-a-neuron  Synaptic transmission Neuronal information transfer Neuronal Ca2+ entry and release channels Priming the inositol 1,4,5-trisphosphate receptors (InsP3Rs) and ryanodine receptors (RYRs) Neuronal coincident detection Input-specific signalling  Presynaptic events Mossy fibre presynaptic Ca2+ release Cerebellar basket cell presynaptic Ca2+ release Hypothalamic neuronal presynaptic Ca2+ release Neocortical glutamatergic presynaptic Ca2+ release Modulation of transmitter release Miniature excitatory postsynaptic currents (mEPSCs) Dendritic transmitter release  Postsynaptic events Postsynaptic changes in membrane potential Postsynaptic generation of Ca2+ signals  Modulation of neuronal activity Neuronal excitability Facilitation  Learning and memory Memory acquisition Neuronal coincident detectors Long-term depression (LTD) Long-term potentiation (LTP) Ca2+ and synaptic plasticity Memory consolidation Neural plasticity and drug addiction Medium spiny neurons  Neuronal gene transcription Direct Ca2+-mediated gene transcription Indirect Ca2+-mediated gene transcription  Neuronal protein synthesis  Hypothalamic pituitary regulation Hypothalamus Posterior pituitary Anterior pituitary  Sensory systems Olfaction Osmoreception Photoreception Rod and cone structure Phototransduction Hearing Nociception Chronic pain Hyperalgesia Touch Taste Hypoxia-sensing mechanisms  References for Module 10
11 Cell stress, inflammatory responses and cell death Cells have intrinsic signalling mechanisms that are capable of sensing various deleterious conditions, both normal and pathological, and respond by mounting a variety of stress responses.
	Synopsis  Inflammatory responses Inflammatory cytokines  Wound healing  Blood platelets  Mast cells Mast cell release mechanisms Mast cell signalling mechanisms  Macrophages Pathogen-associated molecular patterns (PAMPs) Modulation of inflammatory responses  Neutrophils Neutrophil chemotaxis  Senescence Replicative senescence Stress-induced senescence  Autophagy  Apoptosis Apoptotic signalling network Extrinsic pathway Intrinsic pathway Bcl-2 superfamily BH3-only family Multidomain (BH) family Bcl-2 superfamily control of Ca2+ signalling Caspase cascade Hormonal modulation of apoptosis  References for Module 11
12 Signalling defects and disease A large number of diseases are caused by defects in signalling pathways. The nature of these defects and how they are induced varies enormously.
	Synopsis  Pathogenic organisms and viruses Bacillary dysentery Cholera Listeriosis Peptic ulcers Tuberculosis Chlamydial diseases Hepatitis  Signalsome remodelling and disease  Phenotypic remodelling of the signalsome Age-related macular degeneration (AMD) Alzheimer's disease Asthma Cirrhosis of the liver Cushing's syndrome Diabetes Diabetes insipidus (DI) Diabetic nephropathy Diarrhoea Drug addiction Ejaculatory dysfunction Endotoxic shock End-stage renal disease (ESRD) Epilepsy Erectile dysfunction Heart disease Humoral hypercalcaemia of malignancy (HHM) Irritable bowel syndrome Migraine Multiple sclerosis (MS) Nausea Primary hyperparathyroidism Secondary hyperparathyroidism Hypertension Manic-depressive illness (bipolar disorder) Obesity Metabolic syndrome Osteoporosis Pain Premature labour Rheumatoid arthritis Schizophrenia Sudden infant death syndrome (SIDS) Zollinger–Ellison syndrome  Genotypic remodelling of the signalsome Achromatopsia Acute periodic paralysis Albinism Alport syndrome, mental retardation, midface hyperplasia and elliptocytosis (AMME) Amyotrophic lateral sclerosis (ALS) Anderman's disease Andersen-Tawil syndrome Angelman syndrome (AS) Arrhythmogenic ventricular cardiomyopathy type 2 (ARVD2) Ataxia telangiectasia (AT) syndrome Autosomal dominant hypocalcaemia (ADH) Bardet-Biedl syndrome Bartter's disease Bernard–Soulier syndrome Brody disease Bruton's type X-linked agammaglobulinaemia Cancer Tumour cell microenvironment Catecholamine polymorphic ventricular tachycardia (CPVT) Central core disease (CCD) Centronuclear myopathy (CNM) Charcot–Marie–Tooth disease Choroideremia Concurrent generalized epilepsy with paroxysmal dyskinesia Congenital chloride diarrhoea Congenital hyperinsulinism of infancy Congenital insensitivity to pain Congenital lipoid adrenal hyperplasia Cowden's disease Craniofrontonasal syndrome (CFNS) Cystic fibrosis (CF) Darier's disease Dent's disease Dominant nonsyndromic deafness type 2 (DFNA2) Down's syndrome Dubin–Johnson syndrome Early-onset obesity Episodic ataxia type 2 Erythermalgia Familial advanced sleep phase syndrome (FASPS) Familial Alzheimer's disease (FAD) Familial episodic pain syndrome Familial expansile osteolysis Familial hemiplegic migraine (FHM) Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) Familial hypocalciuretic hypercalcaemia (FHH) Familial exudative vitreoretinopathy (FEVR) Familial focal segmental glomerulosclerosis (FSGS) Fanconi anaemia François–Neetens Mouchetée fleck corneal dystrophy (CFD) Fragile X syndrome (FXS) Frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) Gitelman's disease Glanzmann's thrombasthenia Glaucoma Glycogen storage disease Gordon's disease Gorlin's syndrome Griscelli syndrome (GS) Hailey–Hailey disease Hearing loss Hemorrhagic telangiectasia-2 (HHT2) Hereditary sensory and autonomic neuropathies (HSAN) High bone mass syndrome (HBM) Huntington's disease Huntington's disease-like 2 (HDL2) Hyper-IgE syndromes (HIES) Hypogonadotropic hypogonadism Hypokalaemic periodic paralysis (HPP) Hypomagnesaemia hypercalciuria syndrome Hypomagnesaemia with secondary hypocalcaemia Kindler syndrome Lambert–Eaton myasthenic syndrome Leber congenital amaurosis (LCA) Liddle's disease Limb girdle muscular dystrophy type 2A Lissencephaly Long QT syndrome Lowe's oculocerebrorenal (OCRL) syndrome Malignant hyperthermia (MH) Medulloblastomas Martsolf syndrome Mental retardation Microcephaly Microvillus inclusion disease Mucolipidosis Muscular dystrophy Myotonia congenita Neonatal severe hyperparathyroidism (NSHPT) Nephrogenic diabetes insipidus (NDI) Neurofibromatosis type 1 Neurofibromatosis type 2 Niemann–Pick disease Osteopetrosis Osteoporosis pseudoglioma (OPPG) Peutz–Jeghers syndrome Piebaldism Polycystic kidney disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) Posterior polymorphous corneal dystrophy-3 (PPCD) Prader-Willi syndrome (PWS) Progressive familial intrahepatic cholestasis type III (PFIC3) Respiratory distress syndrome (RDS) Retinitis pigmentosa Rett syndrome Scott syndrome Severe combined immune deficiency (SCID) Severe psychomotor retardation Sezary's syndrome Sitosterolaemia Spinocerebellar ataxia type 6 (SCA6) Spinocerebellar ataxia type 12 (SCA12) Stargardt disease Tangier syndrome Timothy syndrome TNF-receptor-associated periodic febrile syndrome (TRAPS) Tuberous sclerosis Usher syndrome Van Buchem disease Waardenburg syndrome Warburg Micro syndrome Wiskott–Aldrich syndrome Wolf–Hirschhorn syndrome (WHS) X-linked adrenoleukodystrophy (X-ALD) X-linked lymphoproliferative syndrome (XLP) X-linked mental retardation X-linked recessive myotubular myopathy X-linked severe combined immune deficiency (X-SCID)  References for Module 12
Index