PEROXISOME BIOGENESIS DISORDER 14B

General Information (adopted from Orphanet):

Synonyms, Signs: PEX14B
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614920
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:0000519) Congenital cataract 73 / 7739
2
(HPO:0001730) Progressive hearing impairment 29 / 7739
3
(HPO:0001256) Intellectual disability, mild 141 / 7739
4
(HPO:0002076) Migraine 41 / 7739
5
(HPO:0001271) Polyneuropathy 56 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders ...
Clinical Description OMIM Ebberink et al. (2012) described a 26-year-old Dutch man with mild intellectual disability and a normal karyotype who was the fourth child of nonconsanguineous parents and had 2 healthy brothers and 1 healthy sister. The mother had had ...
Molecular genetics OMIM In a 26-year-old Dutch man with mild intellectual disability and a normal karyotype, Ebberink et al. (2012) found a homozygous nonsense mutation in the PEX11B gene resulting in no PEX11-beta protein (603867.0001). Overexpression of wildtype PEX11-beta in the ...