Peroxisome biogenesis disorder 10b

Preferred Label : Peroxisome biogenesis disorder 10b;

Symbol : PBD10B;

CISMeF acronym : PBD10B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 3 gene (PEX3, 603164.0003);

Laboratory abnormalities : Increased levels of very long-chain fatty acids; Fibroblasts show residual peroxisomal membrane structures;

Prefixed ID : #617370;

Détails

Origin ID

617370;

UMLS CUI

C4479254;

Genes related to phenotype
- Peroxisome biogenesis factor 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hyperreflexia [HPO term]
- Inverted nipples [HPO term]
- Low-set ears [HPO term]
- Nephrocalcinosis [HPO term]
- Neurogenic bladder [HPO term]
- Nystagmus [HPO term]
- Posteriorly rotated ears [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Zellweger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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