PEROXISOME BIOGENESIS DISORDER 3B

General Information (adopted from Orphanet):

Synonyms, Signs: PBD3B
Number of Symptoms 34
OrphanetNr:
OMIM Id: 266510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001999) Abnormal facial shape 169 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0000457) Depressed nasal ridge 85 / 7739
4
(HPO:0012368) Flat face 106 / 7739
5
(HPO:0000512) Abnormal electroretinogram 61 / 7739
6
(HPO:0000510) Rod-cone dystrophy 266 / 7739
7
(HPO:0000556) Retinal dystrophy 65 / 7739
8
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
(HPO:0001265) Hyporeflexia 208 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0009830) Peripheral neuropathy 206 / 7739
13
(HPO:0001271) Polyneuropathy 56 / 7739
14
(HPO:0000939) Osteoporosis 129 / 7739
15
(HPO:0000954) Single transverse palmar crease 162 / 7739
16
(HPO:0002570) Steatorrhea 31 / 7739
17
(HPO:0002240) Hepatomegaly 467 / 7739
18
(HPO:0001508) Failure to thrive 454 / 7739
19
(HPO:0001892) Abnormal bleeding 85 / 7739
20
(HPO:0003146) Hypocholesterolemia 9 / 7739
21
(HPO:0008167) Very long chain fatty acid accumulation 5 / 7739
22
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
(HPO:0010547) Muscle flaccidity 466 / 7739
24
(HPO:0001252) Muscular hypotonia 990 / 7739
25
(HPO:0001324) Muscle weakness 859 / 7739
26
(OMIM) Episodic bleeding 1 / 7739
27
(OMIM) Pipecolic acid accumulation. 1 / 7739
28
(OMIM) Minor facial dysmorphism 1 / 7739
29
(OMIM) Defective bile acid metabolism 1 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(HPO:0003577) Congenital onset 133 / 7739
32
(OMIM) Phytanic acid accumulation 1 / 7739
33
(OMIM) Di- and trihydroxycholestanoic acid accumulation 1 / 7739
34
(OMIM) Peroxisome deficiency 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 ...
Clinical Description OMIM Christensen et al. (1990) described a patient with ataxia, dysarthric speech, dry skin, hypotonia, and absent reflexes.

Gootjes et al. (2004) reinvestigated the patient of Christensen et al. (1990), a girl from unrelated parents. At age ...

Molecular genetics OMIM In a patient with a mild peroxisomal biogenesis disorder of complementation group 3 who had originally been diagnosed with trihydroxycholestanoyl-CoA oxidase deficiency, Gootjes et al. (2004) detected compound heterozygosity for a nonsense mutation (R180X; 601758.0005) and a missense ...