Disease #04505 (CAGSSS (cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)), OMIM:616007)

Official abbreviation CAGSSS
Name cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
OMIM ID 616007
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene IARS2
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00163754 Fam1PatV3 PubMed: Vona 2018 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - Yes - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), central adrenal insufficiency, growth hormone deficiency, no hypoglycemic episodes, congenital type II esophageal achalasia, short stature, no hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, chronic sensorimotor distal axonal polyneuropathy; 13y-moderate bilateral sensorineural hearing loss - IARS2 1 1 Barbara Vona
00163757 FamPatVII1 PubMed: Schwartzentruber 2014 7-generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents/relatives M yes Canada French-Canadian - - - - CAGSSS see paper; ..., 1m-bilateral nystagmus (HP:0000639), 17m-cataract (HP:0000518), 5y-progressive corneal opacification (HP:0007759), adrenal insufficiency, growth hormone deficiency, hypoglycemic episodes, 2y-bilateral sensorineural stable hearing, 32y-type II esophageal achalasia, disproportionate short stature, 2y-hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, mild neurodevelopment delay, no intellectual disability, 9y6m-peripheral neuropathy IARS2 IARS2 1 3 Johan den Dunnen
00181201 Fam2PatIV1 PubMed: Vona 2018 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, no spine abnormality, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, reduced bone density, no Leigh syndrome, no West syndrome, no intellectual disability, no peripheral neuropathy - IARS2 1 2 Barbara Vona
00296727 Fam2PatIV4 PubMed: Vona 2018 sister F - Iran - - - - - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no congenital type II esophageal achalasia, short stature, no hip dislocation, no scoliosis, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, no Leigh syndrome, no West syndrome, no neurodevelopment delay, no intellectual disability, no peripheral neuropathy IARS2 IARS2 1 1 Johan den Dunnen
00296728 FamPat2 PubMed: Schwartzentruber 2014, - F yes Canada French-Canadian - - - - CAGSSS see paper; ..., 5m-bilateral nystagmus (HP:0000639), 5m-cataract (HP:0000518), 5y-corneal opacification (HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 21m-moderate bilateral sensorineural hearing loss, no type II esophageal achalasia, short stature, congenital hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, early childhood peripheral neuropathy IARS2 IARS2 1 1 Johan den Dunnen
00296729 FamPat3 PubMed: Schwartzentruber 2014 - M yes Canada French-Canadian - - - - CAGSSS see paper; ..., 3m-bilateral nystagmus (HP:0000639), 3m-cataract (HP:0000518), 16y5m-corneal opacification (HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, 18m-hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, 8m-peripheral neuropathy IARS2 IARS2 1 1 Johan den Dunnen
00296730 Pat PubMed: Moosa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Denmark - - - - - CAGSSS see paper; ..., bilateral nystagmus (HP:0000639), 3y-cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 8y-bilateral sensorineural hearing loss, no type II esophageal achalasia, disproportionate short stature (-6SD), congenital hip dislocation, abnormal vertebral bodies, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, peripheral neuropathy, early childhood pain insensitivity IARS2 IARS2 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.