PEROXISOME BIOGENESIS DISORDER 11B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD11B
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614885
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000572) Visual loss 272 / 7739
2
(HPO:0000364) Hearing abnormality 2 / 7739
3
(HPO:0011398) Central hypotonia 12 / 7739
4
(HPO:0011968) Feeding difficulties 240 / 7739
5
(HPO:0011947) Respiratory tract infection 28 / 7739
6
(HPO:0001324) Muscle weakness 859 / 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 Shimozawa et al. (1998) described a patient with a peroxisome biogenesis disorder who was the child of nonconsanguineous Caucasian parents. Pregnancy, birth, and milestones during the first postnatal year were normal. After an upper respiratory infection at the ...
Molecular genetics OMIM Liu et al. (1999) identified homozygosity for a missense mutation in the PEX13 gene (601789.0002) in the patient with NALD described by Shimozawa et al. (1998).