Disease #00008 (CAAHD (arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)), OMIM:611890)

Official abbreviation CAAHD
Name arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)
OMIM ID 611890
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 18
Phenotype entries for this disease 16
Associated with 1 gene GLE1
Associated tissues -
Disease features -
Remarks -
Date created 2012-06-29 14:23:57 +02:00 (CEST)
Date last edited 2020-07-21 21:34:09 +02:00 (CEST)


Individuals

18 entries on 1 page. Showing entries 1 - 18.
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00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00300328 - - - - - - - - - - - CAAHD - - GLE1 2 1 Thabo Yates
00300329 - - - - - - - - - - - CAAHD - - GLE1 2 1 Thabo Yates
00300332 - - - - - Afghanistan - - - - - CAAHD - - GLE1 1 1 Thabo Yates
00306884 Fam30 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306885 Fam31 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306886 Fam32 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306887 Fam33 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306888 Fam34 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306889 Fam35 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306890 Fam36 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306891 Fam37 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306892 Fam38 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD - GLE1 GLE1 2 1 Johan den Dunnen
00306893 Fam39 PubMed: Nousiainen 2008 family - - Finland - - - - - CAAHD distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord GLE1 GLE1 2 1 Johan den Dunnen
00306894 Pat1 PubMed: Said 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Malta Europe;Malta - - - - CAAHD see paper; ... GLE1 GLE1 1 1 Johan den Dunnen
00306895 Pat2 PubMed: Said 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no (Germany) Europe 04y - - - CAAHD see paper; ..., 4y-deceased GLE1 GLE1 2 1 Johan den Dunnen
00306896 Fam PubMed: Paakkola 2018 6-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Finland - - - - - CAAHD see paper; ... GLE1 GLE1 1 2 Johan den Dunnen
00306897 FamPat1/2 PubMed: Smith 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Canada white - - - - CAAHD see paper; ... GLE1 GLE1 2 2 Johan den Dunnen
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