PEROXISOME BIOGENESIS DISORDER 1B

General Information (adopted from Orphanet):

Synonyms, Signs: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
PEROXISOME BIOGENESIS DISORDER (NALD/IRD)
REFSUM DISEASE, INFANTILE
INFANTILE PHYTANIC ACID STORAGE DISEASE
PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
PBD1B
Number of Symptoms 12
OrphanetNr:
OMIM Id: 601539
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:0003159) Hyperoxaluria 6 / 7739
2
(HPO:0000107) Renal cyst 126 / 7739
3
(HPO:0000431) Wide nasal bridge 290 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
(HPO:0000750) Delayed speech and language development 197 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0010655) Epiphyseal stippling 32 / 7739
10
(HPO:0001319) Neonatal hypotonia 101 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(HPO:0002415) Leukodystrophy 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The peroxisome biogenesis disorders (PBDs) neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS). The milder presentations and longer life spans of NALD and IRD result in a more ...
Clinical Description OMIM Benke et al. (1981) reported brother and sister with similar facial features, seizures from birth, delayed neurologic development which began to deteriorate at age 1 year, and sudden death, associated with respiratory infections, before the age of 3 ...
Molecular genetics OMIM Reuber et al. (1997) identified a homozygous gly843-to-asp mutation of the PEX1 gene (G843D; 602136.0001) in at least 1 patient with neonatal adrenoleukodystrophy (NALD) and in several cases of infantile Refsum disease (IRD).

Waterham and Ebberink ...