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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandZellweger Syndrome (D015211)
..Starting node
..expandCerebrohepatorenal Syndrome, Variant Types (C565861)

       Child Nodes:



 Sister Nodes: 
..expandCerebrohepatorenal Syndrome, Variant Types (C565861)
..expandPseudo-Zellweger syndrome (C535818)
..expandZellweger leukodystrophy (C531857)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1962
Name:Cerebrohepatorenal Syndrome, Variant Types
Definition:
Alternative IDs:
ParentIDs:MESH:D015211
TreeNumbers:C06.552.970/C565861 |C10.228.140.163.100.680.970/C565861 |C12.777.419.978/C565861 |C13.351.968.419.978/C565861 |C16.131.077.970/C565861 |C16.320.565.189.680.970/C565861 |C16.320.565.663.970/C565861 |C18.452.132.100.680.970/C565861 |C18.452.648.189.680.970/C56586
Synonyms:Zellweger Syndrome, Variant Types
Slim Mappings:Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565861
MeSH: C565861
OMIM: 214110;

Genes: PEX5;
Phenotypes
1 HP:0001627Abnormal heart morphology
2 HP:0030680Abnormality of cardiovascular system morphology
3 HP:0011039Abnormality of the helix
4 HP:0012103Abnormality of the mitochondrion
5 HP:0003355Aminoaciduria
6 HP:0002104Apnea
7 HP:0001284Areflexia
8 HP:0001088Brushfield spots
9 HP:0012385Camptodactyly
10 HP:0000518Cataract
11 HP:0000175Cleft palate
12 HP:0008665Clitoral hypertrophy
13 HP:0000028Cryptorchidism
14 HP:0002967Cubitus valgus
15 HP:0003819Death in childhood
16 HP:0000268Dolichocephaly
17 HP:0003455Elevated circulating long chain fatty acid concentration
18 HP:0000286Epicanthus
19 HP:0001508Failure to thrive
20 HP:0001290Generalized hypotonia
21 HP:0002240Hepatomegaly
22 HP:0000348High forehead
23 HP:0000316Hypertelorism
24 HP:0000778Hypoplasia of the thymus
25 HP:0001252Hypotonia
26 HP:0001249Intellectual disability
27 HP:0001401Intrahepatic biliary dysgenesis
28 HP:0001511Intrauterine growth retardation
29 HP:0000952Jaundice
30 HP:0009473Joint contracture of the hand
31 HP:0000239Large fontanelles
32 HP:0001840Metatarsus adductus
33 HP:0007759Opacification of the corneal stroma
34 HP:0001093Optic nerve dysplasia
35 HP:0100540Palpebral edema
36 HP:0000580Pigmentary retinopathy
37 HP:0000113Polycystic kidney dysplasia
38 HP:0002033Poor suck
39 HP:0001250Seizure
40 HP:0000954Single transverse palmar crease
41 HP:0002764Stippled chondral calcification
42 HP:0001762Talipes equinovarus
43 HP:0000262Turricephaly
44 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter)5830PEX5Pathogenic61752137RCV000009715; NMedGen:C1859228,OMIM:2141101273611507361150NM_000319.4:c.1255C>TNP_000310.2:p.Arg419TerNC_000012.11:g.7361150C>TOMIM Allelic Variant:600414.0002C1859228 214110 Peroxisome biogenesis disorder 2A