PEROXISOME BIOGENESIS DISORDER 2B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD2B
Number of Symptoms 16
OrphanetNr:
OMIM Id: 202370
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:0000431) Wide nasal bridge 290 / 7739
2
 (HPO:0000268) Dolichocephaly 144 / 7739
3
 (HPO:0000348) High forehead 157 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000286) Epicanthus 371 / 7739
7
 (HPO:0000463) Anteverted nares 305 / 7739
8
 (HPO:0000565) Esotropia 58 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0000846) Adrenal insufficiency 24 / 7739
12
 (HPO:0003455) Elevated long chain fatty acids 8 / 7739
13
 (MedDRA:10043115) Tanning 1 / 7739
14
 (OMIM) Low set 3 / 7739
15
 (OMIM) Peculiar facies 7 / 7739
16
 (OMIM) Cataracts, neonatal polar 1 / 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 ...
Molecular genetics OMIM Dodt et al. (1995) reported a homozygous mutation in the PEX5 gene in a cell line from a patient with NALD (600414.0001).