PBD6A
MCID: PRX051
MIFTS: 27

Peroxisome Biogenesis Disorder 6a (PBD6A)

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 6a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 6a:

Name: Peroxisome Biogenesis Disorder 6a 58 12 76 30 13 6 74
Pbd6a 58 76
Peroxisome Biogenesis Disorder, Complementation Group 7 6
Peroxisome Biogenesis Disorder Complementation Group 7 76
Peroxisome Biogenesis Disorder Complementation Group B 76
Peroxisome Biogenesis Disorder, Type 6a 41
Pbd-Cgb 76
Pbd-Cg7 76
Cg7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
death in neonatal period or early infancy
based on detailed clinical information for 2 patients


HPO:

33
peroxisome biogenesis disorder 6a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 6a

UniProtKB/Swiss-Prot : 76 Peroxisome biogenesis disorder 6A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Peroxisome biogenesis disorder complementation group 7: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).

MalaCards based summary : Peroxisome Biogenesis Disorder 6a, also known as pbd6a, is related to peroxisome biogenesis disorder 6b. An important gene associated with Peroxisome Biogenesis Disorder 6a is PEX10 (Peroxisomal Biogenesis Factor 10). Affiliated tissues include liver and eye, and related phenotypes are seizures and hepatomegaly

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.

OMIM : 58 Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100. (614870)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 6a

Human phenotypes related to Peroxisome Biogenesis Disorder 6a:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hepatomegaly 33 HP:0002240
3 feeding difficulties in infancy 33 HP:0008872
4 severe global developmental delay 33 HP:0011344
5 epiphyseal stippling 33 HP:0010655
6 pachygyria 33 HP:0001302
7 generalized neonatal hypotonia 33 HP:0008935

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
external ear deformity

Abdomen Liver:
hepatomegaly
liver dysfunction

Genitourinary Kidneys:
renal cysts

Skeletal Feet:
sickle foot

Neurologic Central Nervous System:
seizures
colpocephaly
hypotonia
weak neonatal reflexes
pachygyria in the perisylvian regions

Head And Neck Nose:
broad nasal bridge

Head And Neck Head:
enlarged anterior fontanel

Laboratory Abnormalities:
no peroxisomes visualized in cultured fibroblasts
zellweger complementation group 7

Clinical features from OMIM:

614870

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 6a

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

Genetic Tests for Peroxisome Biogenesis Disorder 6a

Genetic tests related to Peroxisome Biogenesis Disorder 6a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 6a 30 PEX10

Anatomical Context for Peroxisome Biogenesis Disorder 6a

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

42
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 6a

Variations for Peroxisome Biogenesis Disorder 6a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 6a:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX10 NM_153818.1(PEX10): c.890T> C (p.Leu297Pro) single nucleotide variant Uncertain significance rs724160000 GRCh37 Chromosome 1, 2338005: 2338005
2 PEX10 NM_153818.1(PEX10): c.890T> C (p.Leu297Pro) single nucleotide variant Uncertain significance rs724160000 GRCh38 Chromosome 1, 2406566: 2406566
3 PEX10 NM_153818.1(PEX10): c.992G> A (p.Arg331Gln) single nucleotide variant Uncertain significance rs724160001 GRCh37 Chromosome 1, 2337254: 2337254
4 PEX10 NM_153818.1(PEX10): c.992G> A (p.Arg331Gln) single nucleotide variant Uncertain significance rs724160001 GRCh38 Chromosome 1, 2405815: 2405815
5 PEX10 NM_153818.1(PEX10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs724160002 GRCh38 Chromosome 1, 2412501: 2412501
6 PEX10 NM_153818.1(PEX10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs724160002 GRCh37 Chromosome 1, 2343940: 2343940
7 PEX10 NM_153818.1(PEX10): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs61752092 GRCh38 Chromosome 1, 2406766: 2406766
8 PEX10 NM_153818.1(PEX10): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs61752092 GRCh37 Chromosome 1, 2338205: 2338205
9 PEX10 NM_153818.1(PEX10): c.880A> G (p.Thr294Ala) single nucleotide variant Benign/Likely benign rs34154371 GRCh37 Chromosome 1, 2338015: 2338015
10 PEX10 NM_153818.1(PEX10): c.880A> G (p.Thr294Ala) single nucleotide variant Benign/Likely benign rs34154371 GRCh38 Chromosome 1, 2406576: 2406576
11 PEX10 NM_153818.1(PEX10): c.600+1G> A single nucleotide variant Pathogenic rs267608183 GRCh37 Chromosome 1, 2339890: 2339890
12 PEX10 NM_153818.1(PEX10): c.600+1G> A single nucleotide variant Pathogenic rs267608183 GRCh38 Chromosome 1, 2408451: 2408451
13 PEX10 NM_153818.1(PEX10): c.373C> T (p.Arg125Ter) single nucleotide variant Likely pathogenic rs61750434 GRCh37 Chromosome 1, 2340118: 2340118
14 PEX10 NM_153818.1(PEX10): c.373C> T (p.Arg125Ter) single nucleotide variant Likely pathogenic rs61750434 GRCh38 Chromosome 1, 2408679: 2408679
15 PEX10 PEX10, 2-BP DEL, 814CT deletion Pathogenic
16 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh37 Chromosome 1, 2338231: 2338231
17 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh38 Chromosome 1, 2406792: 2406792
18 PEX10 PEX10, DEL/INS/FS, NT13 indel Pathogenic
19 PEX10 NM_153818.1(PEX10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041314 GRCh37 Chromosome 1, 2343941: 2343941
20 PEX10 NM_153818.1(PEX10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041314 GRCh38 Chromosome 1, 2412502: 2412502
21 PEX10 NM_153818.1(PEX10): c.771C> T (p.Tyr257=) single nucleotide variant Conflicting interpretations of pathogenicity rs761005209 GRCh38 Chromosome 1, 2406785: 2406785
22 PEX10 NM_153818.1(PEX10): c.771C> T (p.Tyr257=) single nucleotide variant Conflicting interpretations of pathogenicity rs761005209 GRCh37 Chromosome 1, 2338224: 2338224
23 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
24 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh37 Chromosome 1, 2338020: 2338021
25 PEX10 NM_153818.1(PEX10): c.820G> A (p.Gly274Ser) single nucleotide variant Uncertain significance rs761942658 GRCh38 Chromosome 1, 2406736: 2406736
26 PEX10 NM_153818.1(PEX10): c.820G> A (p.Gly274Ser) single nucleotide variant Uncertain significance rs761942658 GRCh37 Chromosome 1, 2338175: 2338175
27 PEX10 NM_153818.1(PEX10): c.275G> A (p.Arg92His) single nucleotide variant Uncertain significance rs375649043 GRCh38 Chromosome 1, 2408777: 2408777
28 PEX10 NM_153818.1(PEX10): c.275G> A (p.Arg92His) single nucleotide variant Uncertain significance rs375649043 GRCh37 Chromosome 1, 2340216: 2340216
29 PEX10 NM_153818.1(PEX10): c.1037G> A (p.Arg346His) single nucleotide variant Uncertain significance rs140890506 GRCh38 Chromosome 1, 2405770: 2405770
30 PEX10 NM_153818.1(PEX10): c.1037G> A (p.Arg346His) single nucleotide variant Uncertain significance rs140890506 GRCh37 Chromosome 1, 2337209: 2337209
31 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh38 Chromosome 1, 2408700: 2408700
32 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh37 Chromosome 1, 2340139: 2340139
33 PEX10 NM_153818.1(PEX10): c.4delG (p.Ala2Profs) deletion Pathogenic/Likely pathogenic rs62636524 GRCh38 Chromosome 1, 2412499: 2412499
34 PEX10 NM_153818.1(PEX10): c.4delG (p.Ala2Profs) deletion Pathogenic/Likely pathogenic rs62636524 GRCh37 Chromosome 1, 2343938: 2343938
35 PEX10 NM_153818.1(PEX10): c.665G> A (p.Arg222His) single nucleotide variant Uncertain significance rs371979619 GRCh37 Chromosome 1, 2338330: 2338330
36 PEX10 NM_153818.1(PEX10): c.665G> A (p.Arg222His) single nucleotide variant Uncertain significance rs371979619 GRCh38 Chromosome 1, 2406891: 2406891
37 PEX10 NM_153818.1(PEX10): c.1039T> C (p.Ter347Arg) single nucleotide variant Uncertain significance rs779199089 GRCh37 Chromosome 1, 2337207: 2337207
38 PEX10 NM_153818.1(PEX10): c.1039T> C (p.Ter347Arg) single nucleotide variant Uncertain significance rs779199089 GRCh38 Chromosome 1, 2405768: 2405768
39 PEX10 NM_153818.1(PEX10): c.752_763del12 (p.Ser251_Arg346del) deletion Likely pathogenic rs768893724 GRCh37 Chromosome 1, 2338231: 2338243
40 PEX10 NM_153818.1(PEX10): c.752_763del12 (p.Ser251_Arg346del) deletion Likely pathogenic rs768893724 GRCh38 Chromosome 1, 2406793: 2406804
41 PEX10 NM_153818.1(PEX10): c.635_636delTGinsCTC (p.Met212Thrfs) indel Likely pathogenic rs1553231888 GRCh37 Chromosome 1, 2338358: 2338360
42 PEX10 NM_153818.1(PEX10): c.635_636delTGinsCTC (p.Met212Thrfs) indel Likely pathogenic rs1553231888 GRCh38 Chromosome 1, 2406920: 2406921
43 PEX10 NM_153818.1(PEX10): c.600+1delG deletion Likely pathogenic rs1553232077 GRCh37 Chromosome 1, 2339889: 2339890
44 PEX10 NM_153818.1(PEX10): c.600+1delG deletion Likely pathogenic rs1553232077 GRCh38 Chromosome 1, 2408451: 2408451
45 PEX10 NM_153818.1(PEX10): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs1291325133 GRCh37 Chromosome 1, 2340280: 2340280
46 PEX10 NM_153818.1(PEX10): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs1291325133 GRCh38 Chromosome 1, 2408841: 2408841
47 PEX10 NM_153818.1(PEX10): c.20delG (p.Ser7Thrfs) deletion Likely pathogenic rs1553232926 GRCh37 Chromosome 1, 2343921: 2343922
48 PEX10 NM_153818.1(PEX10): c.20delG (p.Ser7Thrfs) deletion Likely pathogenic rs1553232926 GRCh38 Chromosome 1, 2412483: 2412483
49 PEX10 NM_153818.1(PEX10): c.928C> G (p.His310Asp) single nucleotide variant Uncertain significance rs61752094 GRCh37 Chromosome 1, 2337967: 2337967
50 PEX10 NM_153818.1(PEX10): c.928C> G (p.His310Asp) single nucleotide variant Uncertain significance rs61752094 GRCh38 Chromosome 1, 2406528: 2406528

Expression for Peroxisome Biogenesis Disorder 6a

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

Pathways for Peroxisome Biogenesis Disorder 6a

GO Terms for Peroxisome Biogenesis Disorder 6a

Molecular functions related to Peroxisome Biogenesis Disorder 6a 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 6a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....