MCID: PRX065
MIFTS: 24

Peroxisome Biogenesis Disorder 3a

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 3a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 3a:

Name: Peroxisome Biogenesis Disorder 3a 57 75 29 13 6 73
Pbd3a 57 75
Peroxisome Biogenesis Disorder Complementation Group 3 75
Peroxisome Biogenesis Disorder, Type 3a 40
Pbd-Cg3 75
Cg3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peroxisome biogenesis disorder 3a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 3a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 3A: 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 3: 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 3a, also known as pbd3a, is related to peroxisome biogenesis disorder 3b and thyroiditis, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 3a is PEX12 (Peroxisomal Biogenesis Factor 12). Affiliated tissues include liver, eye and kidney, and related phenotypes are low-set ears and seizures

OMIM : 57 The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100. (614859)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 3a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
flat face
high forehead

Genitourinary Kidneys:
polycystic kidneys

Abdomen Liver:
single cyst in liver

Skeletal Limbs:
varus deformity, unilateral

Neurologic Central Nervous System:
seizures
areflexia, progressive
ventricular dilatation, occipital, seen on ultrasound

Head And Neck Nose:
broad nasal bridge

Laboratory Abnormalities:
increased very long chain fatty acids (vlcfas)
zellweger complementation group 3
normal serum phytanic acid
normal serum pristanic acid
pipecolic acid elevated in urine and serum
more
Skeletal Skull:
wide open anterior fontanel

Muscle Soft Tissue:
hypotonia, progressive


Clinical features from OMIM:

614859

Human phenotypes related to Peroxisome Biogenesis Disorder 3a:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 seizures 32 HP:0001250
3 hepatomegaly 32 HP:0002240
4 wide nasal bridge 32 HP:0000431
5 feeding difficulties in infancy 32 HP:0008872
6 epiphyseal stippling 32 HP:0010655
7 flat face 32 HP:0012368
8 polycystic kidney dysplasia 32 HP:0000113
9 areflexia 32 HP:0001284
10 high forehead 32 HP:0000348
11 generalized neonatal hypotonia 32 HP:0008935
12 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Peroxisome Biogenesis Disorder 3a:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 3a

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

Genetic Tests for Peroxisome Biogenesis Disorder 3a

Genetic tests related to Peroxisome Biogenesis Disorder 3a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 3a 29 PEX12

Anatomical Context for Peroxisome Biogenesis Disorder 3a

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

41
Liver, Eye, Kidney

Publications for Peroxisome Biogenesis Disorder 3a

Variations for Peroxisome Biogenesis Disorder 3a

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

75
# Symbol AA change Variation ID SNP ID
1 PEX12 p.Arg34Ser VAR_058389 rs147530802

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3a:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX12 PEX12, 4-BP INS, 733GCCT insertion Pathogenic
2 PEX12 PEX12, 1-BP INS, 744T insertion Pathogenic
3 PEX12 PEX12, 4-BP DEL, 684TAGT deletion Pathogenic
4 PEX12 NM_000286.2(PEX12): c.691A> T (p.Lys231Ter) single nucleotide variant Pathogenic rs104894616 GRCh37 Chromosome 17, 33903190: 33903190
5 PEX12 NM_000286.2(PEX12): c.691A> T (p.Lys231Ter) single nucleotide variant Pathogenic rs104894616 GRCh38 Chromosome 17, 35576171: 35576171
6 PEX12 NM_000286.2(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh37 Chromosome 17, 33904199: 33904199
7 PEX12 NM_000286.2(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh38 Chromosome 17, 35577180: 35577180
8 PEX12 NM_000286.2(PEX12): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs28936697 GRCh37 Chromosome 17, 33902922: 33902922
9 PEX12 NM_000286.2(PEX12): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs28936697 GRCh38 Chromosome 17, 35575903: 35575903
10 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
11 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
12 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh38 Chromosome 17, 35576129: 35576132
13 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh37 Chromosome 17, 33903148: 33903151
14 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh37 Chromosome 17, 33903194: 33903197
15 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh38 Chromosome 17, 35576175: 35576178
16 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh37 Chromosome 17, 33904914: 33904914
17 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh38 Chromosome 17, 35577895: 35577895
18 PEX12 NM_000286.2(PEX12): c.765_766dupAT (p.Phe256Tyrfs) duplication Pathogenic rs1057519507 GRCh37 Chromosome 17, 33903115: 33903116
19 PEX12 NM_000286.2(PEX12): c.765_766dupAT (p.Phe256Tyrfs) duplication Pathogenic rs1057519507 GRCh38 Chromosome 17, 35576096: 35576097
20 PEX12 NM_000286.2(PEX12): c.533_535delAAC (p.Gln178del) deletion Pathogenic rs61752102 GRCh38 Chromosome 17, 35577183: 35577185
21 PEX12 NM_000286.2(PEX12): c.533_535delAAC (p.Gln178del) deletion Pathogenic rs61752102 GRCh37 Chromosome 17, 33904202: 33904204

Expression for Peroxisome Biogenesis Disorder 3a

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

Pathways for Peroxisome Biogenesis Disorder 3a

GO Terms for Peroxisome Biogenesis Disorder 3a

Sources for Peroxisome Biogenesis Disorder 3a

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