PEROXISOME BIOGENESIS DISORDER 5B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD5B
Number of Symptoms 20
OrphanetNr:
OMIM Id: 614867
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:0000514) Slow saccadic eye movements 21 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000657) Oculomotor apraxia 54 / 7739
6
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
(HPO:0001265) Hyporeflexia 208 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0001310) Dysmetria 76 / 7739
10
(HPO:0001337) Tremor 200 / 7739
11
(HPO:0002317) Unsteady gait 45 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
14
(HPO:0001410) Decreased liver function 59 / 7739
15
(HPO:0010571) Elevated levels of phytanic acid 3 / 7739
16
(HPO:0008167) Very long chain fatty acid accumulation 5 / 7739
17
(HPO:0001319) Neonatal hypotonia 101 / 7739
18
(HPO:0009046) Difficulty running 17 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(HPO:0001272) Cerebellar atrophy 197 / 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. (1999) investigated a patient with IRD, a Welsh female who presented at the age of 1 year with delayed milestones and joint laxity. Later, retinitis pigmentosa manifested and biochemical investigation showed accumulation of very long ...
Molecular genetics OMIM In a Welsh patient with IRD, Shimozawa et al. (1999) detected compound heterozygosity for a missense mutation (170993.0002) and a nonsense mutation (170993.0001) in the PEX2 gene.