Tables of diseases, risk factors, xenobiotic sensitivities associated with mutations in genes of the superfamily

Diseases

DiseaseGene_locusNum of mutationsOMIM
Chanarin-Dorfman syndromehuman-ABHD5 44 275630, 604780
Congenital absence of pancreatic lipasehuman-PNLIP 8 246600, 614338
Familial hypercholanemiahuman-BAAT, human-EPHX1 3 602938, 607748
Galactosialidosishuman-CTSA 25 256540, 613111
Gilles de la Tourette syndrome (GTS)human-DPP6 1 126141, 137580
Goiter, familial with hypothyroidism, autosomal recessivehuman-TG 89 188450, 274700
Hepatic triglyceride lipase Deficiencyhuman-LIPC 12 151670, 246650
Hereditary motor and sensory neuropathy, LOM Typehuman-NDRG1 8 601455, 605262
Hereditary spastic paraplegia (HSP) ABHD16Ahuman-ABHD16A 9
Hyperlipoproteinemia TypeIhuman-LPL 156 238600, 246650, 609708
Hypobetalipoproteinemia Familial 2human-LIPC 1 151670, 605019
Hypotonia-Cystinuria Syndromehuman-PREPL 10 606407, 609557
Hypotrichosishuman-LIPH 32 604379, 607365
Infantile neuronal ceroid lipofuscinosishuman-PPT1 73 256730, 600722
Late-Onset Form of Autosomal-Recessive Congenital Ichthyosishuman-LIPN 1 613924, 613943
Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)human-LCAT 91 136120, 245900, 606967
Lipoatrophic diabeteshuman-EPHX1 2
Lipodystrophy, familial partial, type 6human-LIPE 3 151750, 615980
MEGDEL syndromehuman-SERAC1 27 614725, 614739
Mast Syndromehuman-SPG21 7 248900, 608181
Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8human-CEL 4 114840, 609812
Mental retardation, autosomal dominant 33human-DPP6 3 126141, 616311
Mental retardation, autosomal recessive 42 MRT42human-PGAP1 9 611655, 615802
NAFLDhuman-ABHD5 2
Neuroligin 1 Alzheimer's disease (AD) Autismhuman-NLGN1 5 600568
Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesityhuman-NLGN2 2 606479
Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1human-NLGN3 3 300336, 300425, 300494
Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2human-NLGN4X, human-NLGN4Y 9 300425, 300427, 300495, 300497
PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracthuman-ABHD12 18 612674, 613599
Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)human-DAGLB 4 614016
Suceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factorhuman-PLA2G7 9 147050, 600807, 601690, 614278
Susceptibility to Hypertriglyceridemiahuman-LIPI 1 145750, 609252
Ventricular fibrillation, paroxysmal familial 2human-DPP6 1 126141, 612956
Wolman disease WD, Cholesterol Ester Storage Disease, CESDhuman-LIPA 61 278000, 613497
pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF)human-NDRG4 1 178370, 614463

Risk factors

Risk factorGene_locusNum of mutationsOMIM
Hypercholesterolemia, familial due to LDLR defect, modifier ofhuman-EPHX2 1 132811
Late-onset Alzheimer diseasehuman-BCHE 1 104300
Non-Hodgkin lymphoma (NHL) or B-cell chronic lymphocytic leukemia (CLL)human-CES1 0 605027

Xenobiotic sensitivity

Xenobiotic sensitivityGene_locusNum of mutationsOMIM
CES-1 deficiencyhuman-CES1 3 114835
Defect in Suxamethonium hydrolysishuman-BCHE 83 177400
Defect in hydroxylation of diphenylhydantoinhuman-EPHX1 1 132810
Hypersensitivity to acetylcholinesterase inhibitorshuman-ACHE 2 100740


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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