Disease #00006 (IVA (isovaleric acidemia (IVA)), OMIM:243500)

Official abbreviation IVA
Name isovaleric acidemia (IVA)
OMIM ID 243500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 8
Phenotype entries for this disease -
Associated with 1 gene IVD
Associated tissues -
Disease features -
Remarks -
Date created 2012-06-15 15:58:49 +02:00 (CEST)
Date last edited 2021-07-01 15:09:07 +02:00 (CEST)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00000124 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD IVD 2 1 Ivo F.A.C. Fokkema
00000125 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD, PEX10, PEX12 IVD 2 1 Ivo F.A.C. Fokkema
00000126 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD, PEX10, PEX12 IVD 1 1 Ivo F.A.C. Fokkema
00000127 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD, PEX10, PEX12, USH2A IVD 2 1 Ivo F.A.C. Fokkema
00000128 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD IVD 1 1 Ivo F.A.C. Fokkema
00000129 - PubMed: Vockley et al (2000) - - - - - - - - - IVA - IVD IVD 2 1 Ivo F.A.C. Fokkema
00000130 - PubMed: Vockley et al (2000) Other IVD allele unknown; no RNA detected but no second variant found in exon region or exon/intron boundaries. - - - - - - - - IVA - IVD IVD, MAK 2 1 Ivo F.A.C. Fokkema
00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, LGMD2I;MDDGC5, MCLMR, 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
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