Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandPeroxisomal Disorders (D018901)
..Starting node
..expandRefsum Disease, Infantile (D052919)

       Child Nodes:



 Sister Nodes: 
..expandAcatalasia (D020642)
..expandAdrenoleukodystrophy (D000326) Child4
..expandBile acid synthesis defect, congenital, 4 (C535444)
..expandChondrodysplasia Punctata, Rhizomelic (D018902) Child3
..expandMevalonate Kinase Deficiency (D054078)
..expandPeroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..expandPeroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..expandPeroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..expandPeroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..expandPeroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..expandPeroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..expandPeroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..expandPeroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..expandPeroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..expandPeroxisome Biogenesis Disorder, Complementation Group D (C566388)
..expandPeroxisome Biogenesis Disorder, Complementation Group E (C566569)
..expandPeroxisome Biogenesis Disorder, Complementation Group G (C566406)
..expandPeroxisome Biogenesis Disorder, Complementation Group H (C566626)
..expandPeroxisome Biogenesis Disorder, Complementation Group J (C563965)
..expandPeroxisome Biogenesis Disorder, Complementation Group K (C566624)
..expandPeroxisome Biogenesis Disorder, Complementation Group R (C566635)
..expandPeroxisome biogenesis disorders (C536664)
..expandRefsum Disease (D012035) Child4
..expandRefsum Disease, Infantile (D052919)
..expandZellweger Syndrome (D015211) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9636
Name:Refsum Disease, Infantile
Definition:An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Alternative IDs:OMIM:601539
ParentIDs:MESH:D018901
TreeNumbers:C10.228.140.163.100.680.865 |C16.320.565.189.680.865 |C16.320.565.663.865 |C18.452.132.100.680.865 |C18.452.648.189.680.865 |C18.452.648.663.865
Synonyms:ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |Disease, Infantile Refsum |Disease, Infantile Refsum's |Infantile Form of Phytanic Acid Storage Disease |Infantile Phytanic Acid Storage Disease |Infantile Refsum Disease |Infantile Refsum's Disease |Infantile Refsums D
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D052919
MeSH: D052919
OMIM: 601539;

Genes: PEX1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001394Cirrhosis
3 HP:0000444Convex nasal ridge
4 HP:0000750Delayed speech and language development
5 HP:0000286Epicanthus
6 HP:0010655Epiphyseal stippling
7 HP:0001290Generalized hypotonia
8 HP:0001263Global developmental delay
9 HP:0001395Hepatic fibrosis
10 HP:0002240Hepatomegaly
11 HP:0003159Hyperoxaluria
12 HP:0002415Leukodystrophy
13 HP:0011800Midface retrusion
14 HP:0001319Neonatal hypotonia
15 HP:0000648Optic atrophy
16 HP:0000107Renal cyst
17 HP:0000510Rod-cone dystrophy
18 HP:0001250Seizure
19 HP:0000407Sensorineural hearing impairment
20 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000466.2(PEX1):c.3379dupC (p.Arg1127Profs)5189PEX1Pathogenic794729652RCV000185568; RCV000185569; NMedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006; MedGen:CN168921,OMIM:60153979212064592120645NM_000466.2:c.3379dupCNP_000457.1:p.Arg1127ProfsNC_000007.13:g.92120645dupG-CN168921 601539 Peroxisome biogenesis disorder 1B; C0043459 214100 Zellweger syndrome