MCID: PRX054
MIFTS: 26

Peroxisome Biogenesis Disorder 12a

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 12a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 12a:

Name: Peroxisome Biogenesis Disorder 12a 57 75 29 13 6 73
Pbd12a 57 75
Peroxisome Biogenesis Disorder, Complementation Group 14 73
Peroxisome Biogenesis Disorder Complementation Group 14 75
Peroxisome Biogenesis Disorder Complementation Group J 75
Peroxisome Biogenesis Disorder, Type 12a 40
Pbd-Cg14 75
Pbd-Cgj 75
Cg14 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
recurrent severe sepsis
death by 16 months of age
three patients have been reported (last curated january 2017)


HPO:

32
peroxisome biogenesis disorder 12a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 12a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 12A: 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 14: 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 12a, is also known as pbd12a. An important gene associated with Peroxisome Biogenesis Disorder 12a is PEX19 (Peroxisomal Biogenesis Factor 19). Affiliated tissues include liver, eye and bone, and related phenotypes are hydrocephalus and seizures

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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100. (614886)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 12a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
hydrocephalus
scaphocephaly
small head (3rd centile)

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
systolic murmur
double outlet right ventricle (dorv)

Head And Neck Face:
triangular face
prominent premaxilla
small receding chin

Head And Neck Nose:
prominent nose
broad nasal bridge

Head And Neck Eyes:
epicanthal folds
periorbital puffiness

Abdomen Biliary Tract:
gallstones

Prenatal Manifestations Movement:
reduced fetal movement

Growth Height:
short stature (3rd centile)

Head And Neck Ears:
asymmetric abnormal ears

Hematology:
disseminated coagulopathy

Neurologic Central Nervous System:
global developmental delay
brisk tendon reflexes
absent moro reflex
absent palmar grasp
epilepsy (resistant to conventional anticonvulsant drugs)
more
Skeletal Skull:
wide anterior fontanel
cranial asymmetry
wide posterior fontanel
open sagittal metopic sutures

Abdomen Liver:
hyperbilirubinemia
liver failure

Muscle Soft Tissue:
hypotonia

Genitourinary Kidneys:
renal tubular defect

Skeletal:
dense bones

Laboratory Abnormalities:
decreased pristanic acid beta-oxidation
elevated plasma very long chain fatty acids (vlcfa)
complete absence of peroxisomes in fibroblasts
deficiency of dihydroxyacetonephosphate acyltransferase (dhapat)
decreased phytanic acid alpha-oxidation

Growth Weight:
low weight (3rd centile)

Genitourinary External Genitalia Male:
abnormal male genitals

Prenatal Manifestations Amniotic Fluid:
diminished amniotic fluid


Clinical features from OMIM:

614886

Human phenotypes related to Peroxisome Biogenesis Disorder 12a:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 wide nasal bridge 32 HP:0000431
5 abnormal cortical bone morphology 32 HP:0003103
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 renal tubular dysfunction 32 HP:0000124
9 patent ductus arteriosus 32 HP:0001643
10 epicanthus 32 HP:0000286
11 periorbital fullness 32 HP:0000629
12 growth delay 32 HP:0001510
13 elevated hepatic transaminases 32 HP:0002910
14 atrial septal defect 32 HP:0001631
15 cholelithiasis 32 HP:0001081
16 wide anterior fontanel 32 HP:0000260
17 hepatic failure 32 HP:0001399
18 decreased fetal movement 32 HP:0001558
19 triangular face 32 HP:0000325
20 decreased body weight 32 HP:0004325
21 hyperbilirubinemia 32 HP:0002904
22 prominent nose 32 HP:0000448
23 cerebral atrophy 32 HP:0002059
24 generalized hypotonia 32 HP:0001290
25 abnormality of the male genitalia 32 HP:0010461
26 cranial asymmetry 32 HP:0000267
27 central hypotonia 32 HP:0011398
28 delayed closure of the anterior fontanelle 32 HP:0001476
29 double outlet right ventricle 32 HP:0001719
30 cns demyelination 32 HP:0007305
31 scaphocephaly 32 HP:0030799
32 elevated long chain fatty acids 32 HP:0003455
33 abnormality of the hairline 32 HP:0009553

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 12a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 12a

Genetic Tests for Peroxisome Biogenesis Disorder 12a

Genetic tests related to Peroxisome Biogenesis Disorder 12a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 12a 29 PEX19

Anatomical Context for Peroxisome Biogenesis Disorder 12a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 12a:

41
Liver, Eye, Bone

Publications for Peroxisome Biogenesis Disorder 12a

Variations for Peroxisome Biogenesis Disorder 12a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 12a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX19 PEX19, 1-BP INS, 764A insertion Pathogenic
2 PEX19 PEX19, 1-BP DEL, 320A deletion Pathogenic
3 PEX19 NM_002857.3(PEX19): c.879T> C (p.Gly293=) single nucleotide variant Benign/Likely benign rs74125561 GRCh37 Chromosome 1, 160249362: 160249362
4 PEX19 NM_002857.3(PEX19): c.879T> C (p.Gly293=) single nucleotide variant Benign/Likely benign rs74125561 GRCh38 Chromosome 1, 160279572: 160279572
5 PEX19 NM_002857.3(PEX19): c.261C> T (p.Phe87=) single nucleotide variant Benign/Likely benign rs146644725 GRCh37 Chromosome 1, 160252819: 160252819
6 PEX19 NM_002857.3(PEX19): c.261C> T (p.Phe87=) single nucleotide variant Benign/Likely benign rs146644725 GRCh38 Chromosome 1, 160283029: 160283029

Expression for Peroxisome Biogenesis Disorder 12a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 12a.

Pathways for Peroxisome Biogenesis Disorder 12a

GO Terms for Peroxisome Biogenesis Disorder 12a

Sources for Peroxisome Biogenesis Disorder 12a

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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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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