MCID: PRX066
MIFTS: 20

Peroxisome Biogenesis Disorder 3b

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 3b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 3b:

Name: Peroxisome Biogenesis Disorder 3b 57 75 13 73
Pbd3b 57 75
Peroxisome Biogenesis Disorder, Type 3b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset


HPO:

32
peroxisome biogenesis disorder 3b:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 3b

OMIM : 57 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 variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see 214100. (266510)

MalaCards based summary : Peroxisome Biogenesis Disorder 3b, is also known as pbd3b, and has symptoms including decreased tendon reflex An important gene associated with Peroxisome Biogenesis Disorder 3b is PEX12 (Peroxisomal Biogenesis Factor 12). Affiliated tissues include liver, and related phenotypes are malar flattening and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 3B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 3b

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skeletal:
osteoporosis

Head And Neck Face:
flat face
minor facial dysmorphism

Abdomen Gastrointestinal:
steatorrhea

Neurologic Central Nervous System:
developmental delay
hypotonia
mental retardation

Head And Neck Ears:
sensorineural deafness

Hematology:
episodic bleeding

Abdomen Liver:
hepatomegaly

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased deep tendon reflexes

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa
abnormal erg

Laboratory Abnormalities:
hypocholesterolemia
very long chain fatty acid accumulation
phytanic acid accumulation
di- and trihydroxycholestanoic acid accumulation
pipecolic acid accumulation.
more
Head And Neck Nose:
flat nose

Skin Nails Hair Skin:
simian crease


Clinical features from OMIM:

266510

Human phenotypes related to Peroxisome Biogenesis Disorder 3b:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 sensorineural hearing impairment 32 HP:0000407
3 depressed nasal ridge 32 HP:0000457
4 rod-cone dystrophy 32 HP:0000510
5 abnormal electroretinogram 32 HP:0000512
6 osteoporosis 32 HP:0000939
7 single transverse palmar crease 32 HP:0000954
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 global developmental delay 32 HP:0001263
11 hyporeflexia 32 HP:0001265
12 polyneuropathy 32 HP:0001271
13 generalized hypotonia 32 HP:0001290
14 failure to thrive 32 HP:0001508
15 abnormal bleeding 32 HP:0001892
16 hepatomegaly 32 HP:0002240
17 steatorrhea 32 HP:0002570
18 hypocholesterolemia 32 HP:0003146
19 very long chain fatty acid accumulation 32 HP:0008167
20 flat face 32 HP:0012368

UMLS symptoms related to Peroxisome Biogenesis Disorder 3b:


decreased tendon reflex

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 3b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 3b

Genetic Tests for Peroxisome Biogenesis Disorder 3b

Anatomical Context for Peroxisome Biogenesis Disorder 3b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 3b:

41
Liver

Publications for Peroxisome Biogenesis Disorder 3b

Variations for Peroxisome Biogenesis Disorder 3b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 3b:

75
# Symbol AA change Variation ID SNP ID
1 PEX12 p.Ser320Phe VAR_031998 rs28936697

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
2 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
3 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh38 Chromosome 17, 35576129: 35576132
4 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh37 Chromosome 17, 33903148: 33903151
5 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh37 Chromosome 17, 33903194: 33903197
6 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh38 Chromosome 17, 35576175: 35576178
7 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh37 Chromosome 17, 33904914: 33904914
8 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh38 Chromosome 17, 35577895: 35577895

Expression for Peroxisome Biogenesis Disorder 3b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 3b.

Pathways for Peroxisome Biogenesis Disorder 3b

GO Terms for Peroxisome Biogenesis Disorder 3b

Sources for Peroxisome Biogenesis Disorder 3b

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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