PBD8A
MCID: PRX091
MIFTS: 28

Peroxisome Biogenesis Disorder 8a (PBD8A)

Categories: Ear 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 8a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 8a:

Name: Peroxisome Biogenesis Disorder 8a 57 12 72 29 13 6 70
Pbd8a 57 72
Peroxisome Biogenesis Disorder Complementation Group 9 72
Peroxisome Biogenesis Disorder Complementation Group D 72
Peroxisome Biogenesis Disorder, Type 8a 39
Pbd-Cgd 72
Pbd-Cg9 72
Cg9 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
clinical features based on information from nigms human genetic mutant cell repository, cell line gm06231


HPO:

31
peroxisome biogenesis disorder 8a:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 8a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 8A: 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 9: 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 8a, also known as pbd8a, is related to peroxisome biogenesis disorder 8b and methylmalonic aciduria due to methylmalonyl-coa mutase deficiency, and has symptoms including icterus An important gene associated with Peroxisome Biogenesis Disorder 8a is PEX16 (Peroxisomal Biogenesis Factor 16). Affiliated tissues include eye, and related phenotypes are cataract and hepatomegaly

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX16 gene on chromosome 11p11.

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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100. (614876) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 8a

Human phenotypes related to Peroxisome Biogenesis Disorder 8a:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 hepatomegaly 31 HP:0002240
3 feeding difficulties in infancy 31 HP:0008872
4 epiphyseal stippling 31 HP:0010655
5 jaundice 31 HP:0000952
6 ventricular septal defect 31 HP:0001629
7 glossoptosis 31 HP:0000162
8 severe global developmental delay 31 HP:0011344
9 generalized neonatal hypotonia 31 HP:0008935
10 generalized hypotonia 31 HP:0001290
11 elevated serum aspartate aminotransferase 31 HP:0031956
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly
jaundice

Cardiovascular Heart:
ventricular septal defect

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)
elevated cerebrospinal fluid (csf) protein

Skin Nails Hair Skin:
jaundice

Head And Neck Mouth:
glossoptosis

Head And Neck Eyes:
cataracts

Head And Neck Head:
craniofacial dysmorphia

Clinical features from OMIM®:

614876 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 8a:


icterus

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 8a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 8a

Genetic Tests for Peroxisome Biogenesis Disorder 8a

Genetic tests related to Peroxisome Biogenesis Disorder 8a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 8a 29 PEX16

Anatomical Context for Peroxisome Biogenesis Disorder 8a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 8a:

40
Eye

Publications for Peroxisome Biogenesis Disorder 8a

Articles related to Peroxisome Biogenesis Disorder 8a:

# Title Authors PMID Year
1
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. 57 6
11890679 2002
2
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. 6 57
9837814 1998
3
Peroxisome biogenesis disorders. 57
17055079 2006

Variations for Peroxisome Biogenesis Disorder 8a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 8a:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX16 NM_004813.3(PEX16):c.952+2T>C SNV Pathogenic 6467 rs267608185 GRCh37: 11:45932447-45932447
GRCh38: 11:45910896-45910896
2 PEX16 NM_004813.3(PEX16):c.526C>T (p.Arg176Ter) SNV Pathogenic 6466 rs61752117 GRCh37: 11:45936170-45936170
GRCh38: 11:45914619-45914619
3 PEX16 NM_004813.3(PEX16):c.204G>T (p.Glu68Asp) SNV Uncertain significance 196397 rs149348130 GRCh37: 11:45937799-45937799
GRCh38: 11:45916248-45916248
4 PEX16 NM_004813.3(PEX16):c.695-6C>T SNV Uncertain significance 198814 rs372182266 GRCh37: 11:45935760-45935760
GRCh38: 11:45914209-45914209
5 PEX16 NM_004813.3(PEX16):c.262G>A (p.Val88Met) SNV Uncertain significance 498836 rs567165324 GRCh37: 11:45937351-45937351
GRCh38: 11:45915800-45915800
6 MMUT NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) SNV Uncertain significance 909634 GRCh37: 6:49403330-49403330
GRCh38: 6:49435617-49435617
7 PEX16 NM_004813.3(PEX16):c.1002T>C (p.Ser334=) SNV Uncertain significance 286888 rs144897515 GRCh37: 11:45931814-45931814
GRCh38: 11:45910263-45910263
8 PEX16 NM_004813.3(PEX16):c.695-6C>T SNV Uncertain significance 198814 rs372182266 GRCh37: 11:45935760-45935760
GRCh38: 11:45914209-45914209
9 PEX16 NM_004813.4(PEX16):c.861C>T (p.Arg287=) SNV Uncertain significance 877671 GRCh37: 11:45935396-45935396
GRCh38: 11:45913845-45913845
10 PEX16 NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) SNV Uncertain significance 877672 GRCh37: 11:45935719-45935719
GRCh38: 11:45914168-45914168
11 PEX16 NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) SNV Uncertain significance 877673 GRCh37: 11:45935743-45935743
GRCh38: 11:45914192-45914192
12 PEX16 NM_004813.4(PEX16):c.672C>T (p.Tyr224=) SNV Uncertain significance 878684 GRCh37: 11:45935889-45935889
GRCh38: 11:45914338-45914338
13 PEX16 NM_004813.4(PEX16):c.616C>G (p.Leu206Val) SNV Uncertain significance 878685 GRCh37: 11:45935945-45935945
GRCh38: 11:45914394-45914394
14 PEX16 NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) SNV Uncertain significance 878686 GRCh37: 11:45937025-45937025
GRCh38: 11:45915474-45915474
15 PEX16 NM_004813.4(PEX16):c.*175C>A SNV Uncertain significance 879237 GRCh37: 11:45931630-45931630
GRCh38: 11:45910079-45910079
16 PEX16 NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) SNV Uncertain significance 879295 GRCh37: 11:45937806-45937806
GRCh38: 11:45916255-45916255
17 PEX16 NM_004813.4(PEX16):c.*70C>G SNV Uncertain significance 880426 GRCh37: 11:45931735-45931735
GRCh38: 11:45910184-45910184
18 PEX16 NM_004813.4(PEX16):c.*53C>G SNV Uncertain significance 880427 GRCh37: 11:45931752-45931752
GRCh38: 11:45910201-45910201
19 PEX16 NM_004813.4(PEX16):c.149-13C>G SNV Uncertain significance 880471 GRCh37: 11:45937867-45937867
GRCh38: 11:45916316-45916316
20 PEX16 NM_004813.4(PEX16):c.-63G>C SNV Uncertain significance 880472 GRCh37: 11:45939425-45939425
GRCh38: 11:45917874-45917874
21 PEX16 NM_004813.3(PEX16):c.348C>T (p.Ile116=) SNV Uncertain significance 304796 rs886048328 GRCh37: 11:45937265-45937265
GRCh38: 11:45915714-45915714
22 PEX16 NM_004813.3(PEX16):c.609C>T (p.His203=) SNV Uncertain significance 304793 rs537046144 GRCh37: 11:45935952-45935952
GRCh38: 11:45914401-45914401
23 PEX16 NM_004813.3(PEX16):c.726G>A (p.Ser242=) SNV Uncertain significance 304789 rs200414298 GRCh37: 11:45935723-45935723
GRCh38: 11:45914172-45914172
24 PEX16 NM_004813.3(PEX16):c.360-7G>A SNV Uncertain significance 304795 rs202161790 GRCh37: 11:45937126-45937126
GRCh38: 11:45915575-45915575
25 PEX16 NM_004813.3(PEX16):c.*376G>A SNV Uncertain significance 304777 rs143868125 GRCh37: 11:45931429-45931429
GRCh38: 11:45909878-45909878
26 PEX16 NM_004813.3(PEX16):c.*491G>A SNV Uncertain significance 304774 rs886048324 GRCh37: 11:45931314-45931314
GRCh38: 11:45909763-45909763
27 PEX16 NM_004813.3(PEX16):c.*309G>C SNV Uncertain significance 304780 rs886048325 GRCh37: 11:45931496-45931496
GRCh38: 11:45909945-45909945
28 PEX16 NM_004813.3(PEX16):c.946G>A (p.Val316Ile) SNV Uncertain significance 304786 rs775371916 GRCh37: 11:45932455-45932455
GRCh38: 11:45910904-45910904
29 PEX16 NM_004813.3(PEX16):c.540C>G (p.Asn180Lys) SNV Uncertain significance 304794 rs886048327 GRCh37: 11:45936156-45936156
GRCh38: 11:45914605-45914605
30 PEX16 NM_004813.3(PEX16):c.694+11C>T SNV Uncertain significance 304791 rs763840804 GRCh37: 11:45935856-45935856
GRCh38: 11:45914305-45914305
31 PEX16 NM_004813.3(PEX16):c.*557G>C SNV Uncertain significance 304773 rs770223341 GRCh37: 11:45931248-45931248
GRCh38: 11:45909697-45909697
32 PEX16 NM_004813.3(PEX16):c.*324G>A SNV Uncertain significance 304779 rs879320611 GRCh37: 11:45931481-45931481
GRCh38: 11:45909930-45909930
33 PEX16 NM_004813.3(PEX16):c.*277C>T SNV Uncertain significance 304782 rs886048326 GRCh37: 11:45931528-45931528
GRCh38: 11:45909977-45909977
34 PEX16 NM_004813.3(PEX16):c.*107C>T SNV Uncertain significance 304784 rs201513691 GRCh37: 11:45931698-45931698
GRCh38: 11:45910147-45910147
35 PEX16 NM_004813.3(PEX16):c.918G>C (p.Leu306=) SNV Uncertain significance 304787 rs753109224 GRCh37: 11:45932483-45932483
GRCh38: 11:45910932-45910932
36 PEX16 NM_004813.3(PEX16):c.877C>T (p.Arg293Cys) SNV Uncertain significance 282806 rs544053792 GRCh37: 11:45935380-45935380
GRCh38: 11:45913829-45913829
37 PEX16 NM_004813.3(PEX16):c.461A>G (p.Asp154Gly) SNV Uncertain significance 500755 rs140695185 GRCh37: 11:45936235-45936235
GRCh38: 11:45914684-45914684
38 PEX16 NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) SNV Uncertain significance 813887 rs754024503 GRCh37: 11:45935881-45935881
GRCh38: 11:45914330-45914330
39 PEX16 NM_004813.3(PEX16):c.812G>A (p.Arg271Gln) SNV Uncertain significance 596919 rs769838583 GRCh37: 11:45935445-45935445
GRCh38: 11:45913894-45913894
40 PEX16 NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) SNV Uncertain significance 1032942 GRCh37: 11:45937386-45937386
GRCh38: 11:45915835-45915835
41 PEX16 NM_004813.3(PEX16):c.461A>G (p.Asp154Gly) SNV Uncertain significance 500755 rs140695185 GRCh37: 11:45936235-45936235
GRCh38: 11:45914684-45914684
42 PEX16 NM_004813.3(PEX16):c.699C>T (p.Leu233=) SNV Uncertain significance 304790 rs781411790 GRCh37: 11:45935750-45935750
GRCh38: 11:45914199-45914199
43 PEX16 NM_004813.3(PEX16):c.*65T>C SNV Likely benign 304785 rs16938413 GRCh37: 11:45931740-45931740
GRCh38: 11:45910189-45910189
44 PEX16 NM_004813.3(PEX16):c.*10C>T SNV Likely benign 281167 rs201127195 GRCh37: 11:45931795-45931795
GRCh38: 11:45910244-45910244
45 PEX16 NM_004813.3(PEX16):c.149-6C>T SNV Likely benign 719045 rs78883829 GRCh37: 11:45937860-45937860
GRCh38: 11:45916309-45916309
46 PEX16 NM_004813.3(PEX16):c.760G>C (p.Val254Leu) SNV Benign 304788 rs35214605 GRCh37: 11:45935689-45935689
GRCh38: 11:45914138-45914138
47 PEX16 NM_004813.3(PEX16):c.873T>C (p.Tyr291=) SNV Benign 259547 rs1132349 GRCh37: 11:45935384-45935384
GRCh38: 11:45913833-45913833
48 PEX16 NM_004813.3(PEX16):c.303C>T (p.Ala101=) SNV Benign 304797 rs80275010 GRCh37: 11:45937310-45937310
GRCh38: 11:45915759-45915759
49 PEX16 NM_004813.3(PEX16):c.*303C>T SNV Benign 304781 rs10838529 GRCh37: 11:45931502-45931502
GRCh38: 11:45909951-45909951
50 PEX16 NM_004813.3(PEX16):c.*376G>C SNV Benign 304776 rs143868125 GRCh37: 11:45931429-45931429
GRCh38: 11:45909878-45909878

Expression for Peroxisome Biogenesis Disorder 8a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 8a.

Pathways for Peroxisome Biogenesis Disorder 8a

GO Terms for Peroxisome Biogenesis Disorder 8a

Sources for Peroxisome Biogenesis Disorder 8a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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