PBD10A
MCID: PRX048
MIFTS: 25

Peroxisome Biogenesis Disorder 10a (PBD10A)

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 10a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 10a:

Name: Peroxisome Biogenesis Disorder 10a 57 75 29 13 6 73
Pbd10a 57 75
Peroxisome Biogenesis Disorder, Complementation Group 12 73
Peroxisome Biogenesis Disorder Complementation Group 12 75
Peroxisome Biogenesis Disorder Complementation Group G 75
Peroxisome Biogenesis Disorder, Type 10a 40
Pbd-Cg12 75
Pbd-Cgg 75
Cg12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
peroxisome biogenesis disorder complementation group 12, cg12
peroxisome biogenesis disorder complementation group g, cgg
clinical details based on report of 2 patients (last curated february 2017)


HPO:

32
peroxisome biogenesis disorder 10a:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 10a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 10A: 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 12: 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 10a, is also known as pbd10a. An important gene associated with Peroxisome Biogenesis Disorder 10a is PEX3 (Peroxisomal Biogenesis Factor 3). Affiliated tissues include liver, eye and heart, and related phenotypes are hypertelorism and high palate

OMIM : 57 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 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see 214100. (614882)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 10a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent epicanthic folds
corneal haze without cataract

Prenatal Manifestations Movement:
decreased fetal movement

Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

Abdomen Liver:
enlarged liver
no peroxisomes

Cardiovascular Heart:
multiple congenital heart defects

Laboratory Abnormalities:
no peroxisomes
elevated very long chain fatty acids
decreased pristanic acid beta-oxidation
decreased alkyl dhap synthase
decreased dhap-at

Head And Neck Face:
micrognathia
prominent midface

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
focal microgyria
seizures, controlled by medication
abnormalities of inferior olivary nucleus

Head And Neck Ears:
abnormal ears

Chest Ribs Sternum Clavicles And Scapulae:
irregular costochondral ossification

Skeletal Skull:
widely patent metopic and sagittal sutures


Clinical features from OMIM:

614882

Human phenotypes related to Peroxisome Biogenesis Disorder 10a:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 seizures 32 HP:0001250
4 cataract 32 HP:0000518
5 hepatomegaly 32 HP:0002240
6 micrognathia 32 HP:0000347
7 feeding difficulties 32 HP:0011968
8 epicanthus 32 HP:0000286
9 severe global developmental delay 32 HP:0011344
10 epiphyseal stippling 32 HP:0010655
11 broad forehead 32 HP:0000337
12 downslanted palpebral fissures 32 HP:0000494
13 areflexia 32 HP:0001284
14 high forehead 32 HP:0000348
15 decreased fetal movement 32 HP:0001558
16 generalized hypotonia 32 HP:0001290
17 prominent nose 32 HP:0000448
18 generalized neonatal hypotonia 32 HP:0008935

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 10a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 10a

Genetic Tests for Peroxisome Biogenesis Disorder 10a

Genetic tests related to Peroxisome Biogenesis Disorder 10a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 10a 29 PEX3

Anatomical Context for Peroxisome Biogenesis Disorder 10a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 10a:

41
Liver, Eye, Heart

Publications for Peroxisome Biogenesis Disorder 10a

Variations for Peroxisome Biogenesis Disorder 10a

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 10a:

75
# Symbol AA change Variation ID SNP ID
1 PEX3 p.Gly138Glu VAR_009304

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 10a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX3 PEX3, 1-BP INS, 543T insertion Pathogenic
2 PEX3 PEX3, IVS10AS, T-G, -8 single nucleotide variant Pathogenic

Expression for Peroxisome Biogenesis Disorder 10a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 10a.

Pathways for Peroxisome Biogenesis Disorder 10a

GO Terms for Peroxisome Biogenesis Disorder 10a

Sources for Peroxisome Biogenesis Disorder 10a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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