MCID: PRX043
MIFTS: 23

Peroxisome Biogenesis Disorder 6b

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 6b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 6b:

Name: Peroxisome Biogenesis Disorder 6b 57 75 29 13 6 73
Pbd6b 57 75
Peroxisome Biogenesis Disorder, Type 6b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in infancy or early childhood
mild disorder
four unrelated patients have been reported (last curated january 2015)


HPO:

32
peroxisome biogenesis disorder 6b:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 6b

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. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (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 PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100. (614871)

MalaCards based summary : Peroxisome Biogenesis Disorder 6b, is also known as pbd6b, and has symptoms including cerebellar ataxia An important gene associated with Peroxisome Biogenesis Disorder 6b is PEX10 (Peroxisomal Biogenesis Factor 10). Affiliated tissues include liver, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 6B: 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 6b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
impaired smooth pursuit
dysmetric saccades

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
hyporeflexia (in some patients)
axonal motor neuropathy (in some patients)

Laboratory Abnormalities:
increased bile acid intermediates (dhca and thca)
increased plasma branched-chain fatty acids
increased plasma pristanic acid
increased plasma phytanic acid
increased plasma pipecolic acid

Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
cerebellar ataxia
white matter abnormalities (1 patient)
intention tremor (1 patient)

Skeletal Feet:
pes cavus (1 patient)

Muscle Soft Tissue:
distal muscle atrophy (1 patient)
hypotonia, mild (1 patient)


Clinical features from OMIM:

614871

Human phenotypes related to Peroxisome Biogenesis Disorder 6b:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 dysarthria 32 HP:0001260
4 global developmental delay 32 HP:0001263
5 sensorineural hearing impairment 32 HP:0000407
6 visual impairment 32 HP:0000505
7 neonatal hypotonia 32 HP:0001319
8 decreased liver function 32 HP:0001410
9 pes cavus 32 occasional (7.5%) HP:0001761
10 intention tremor 32 occasional (7.5%) HP:0002080
11 hyporeflexia 32 occasional (7.5%) HP:0001265
12 cerebellar atrophy 32 HP:0001272
13 retinal dystrophy 32 HP:0000556
14 generalized hypotonia 32 occasional (7.5%) HP:0001290
15 distal amyotrophy 32 occasional (7.5%) HP:0003693
16 distal sensory impairment 32 occasional (7.5%) HP:0002936
17 impaired smooth pursuit 32 HP:0007772
18 abnormality of the cerebral white matter 32 occasional (7.5%) HP:0002500
19 dysmetric saccades 32 HP:0000641

UMLS symptoms related to Peroxisome Biogenesis Disorder 6b:


cerebellar ataxia

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 6b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 6b

Genetic Tests for Peroxisome Biogenesis Disorder 6b

Genetic tests related to Peroxisome Biogenesis Disorder 6b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 6b 29 PEX10

Anatomical Context for Peroxisome Biogenesis Disorder 6b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 6b:

41
Liver

Publications for Peroxisome Biogenesis Disorder 6b

Variations for Peroxisome Biogenesis Disorder 6b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 6b:

75
# Symbol AA change Variation ID SNP ID
1 PEX10 p.His290Gln VAR_007805 rs61752095

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 6b:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX10 NM_153818.1(PEX10): c.930C> G (p.His310Gln) single nucleotide variant Pathogenic rs61752095 GRCh37 Chromosome 1, 2337965: 2337965
2 PEX10 NM_153818.1(PEX10): c.930C> G (p.His310Gln) single nucleotide variant Pathogenic rs61752095 GRCh38 Chromosome 1, 2406526: 2406526
3 PEX10 NM_153818.1(PEX10): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs61750434 GRCh37 Chromosome 1, 2340118: 2340118
4 PEX10 NM_153818.1(PEX10): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs61750434 GRCh38 Chromosome 1, 2408679: 2408679
5 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh37 Chromosome 1, 2338231: 2338231
6 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh38 Chromosome 1, 2406792: 2406792
7 PEX10 NM_002617.3(PEX10): c.337delC (p.Leu113Trpfs) deletion Pathogenic rs724159999 GRCh37 Chromosome 1, 2340154: 2340154
8 PEX10 NM_002617.3(PEX10): c.337delC (p.Leu113Trpfs) deletion Pathogenic rs724159999 GRCh38 Chromosome 1, 2408715: 2408715
9 PEX10 NM_153818.1(PEX10): c.890T> C (p.Leu297Pro) single nucleotide variant Pathogenic rs724160000 GRCh37 Chromosome 1, 2338005: 2338005
10 PEX10 NM_153818.1(PEX10): c.890T> C (p.Leu297Pro) single nucleotide variant Pathogenic rs724160000 GRCh38 Chromosome 1, 2406566: 2406566
11 PEX10 NM_153818.1(PEX10): c.992G> A (p.Arg331Gln) single nucleotide variant Pathogenic rs724160001 GRCh37 Chromosome 1, 2337254: 2337254
12 PEX10 NM_153818.1(PEX10): c.992G> A (p.Arg331Gln) single nucleotide variant Pathogenic rs724160001 GRCh38 Chromosome 1, 2405815: 2405815
13 PEX10 NM_153818.1(PEX10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs724160002 GRCh38 Chromosome 1, 2412501: 2412501
14 PEX10 NM_153818.1(PEX10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs724160002 GRCh37 Chromosome 1, 2343940: 2343940
15 PEX10 NM_153818.1(PEX10): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs61752092 GRCh38 Chromosome 1, 2406766: 2406766
16 PEX10 NM_153818.1(PEX10): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs61752092 GRCh37 Chromosome 1, 2338205: 2338205
17 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
18 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh37 Chromosome 1, 2338020: 2338021
19 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh38 Chromosome 1, 2408700: 2408700
20 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh37 Chromosome 1, 2340139: 2340139

Expression for Peroxisome Biogenesis Disorder 6b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 6b.

Pathways for Peroxisome Biogenesis Disorder 6b

GO Terms for Peroxisome Biogenesis Disorder 6b

Molecular functions related to Peroxisome Biogenesis Disorder 6b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 8.62 PLCH2 RER1

Sources for Peroxisome Biogenesis Disorder 6b

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74 UMLS via Orphanet
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