PEROXISOME BIOGENESIS DISORDER 8B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD8B
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614877
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000648) Optic atrophy 238 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0000556) Retinal dystrophy 65 / 7739
5
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
(HPO:0001263) Global developmental delay 853 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001410) Decreased liver function 59 / 7739
9
(HPO:0008167) Very long chain fatty acid accumulation 5 / 7739
10
(HPO:0001319) Neonatal hypotonia 101 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is ...
Clinical Description OMIM Ebberink et al. (2010) studied 6 patients with a relatively mild peroxisome biogenesis disorder. Two sibs presented between age 1 and 2 years with delayed walking and frequent falls after normal initial development. The disorder was progressive, characterized ...
Molecular genetics OMIM In 6 patients with a mild PBD, Ebberink et al. (2010) sequenced all known PEX genes and identified mutations in PEX16 in each patient (603360.0003-603360.0005). Expression of wildtype PEX16 restored the number and size of peroxisomes in patient ...