PBD3B
MCID: PRX066
MIFTS: 21

Peroxisome Biogenesis Disorder 3b (PBD3B)

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 3b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 3b:

Name: Peroxisome Biogenesis Disorder 3b 58 76 13 74
Pbd3b 58 76
Peroxisome Biogenesis Disorder, Type 3b 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset


HPO:

33
peroxisome biogenesis disorder 3b:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 3b

OMIM : 58 The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see 214100. (266510)

MalaCards based summary : Peroxisome Biogenesis Disorder 3b, is also known as pbd3b, and has symptoms including decreased tendon reflex An important gene associated with Peroxisome Biogenesis Disorder 3b is PEX12 (Peroxisomal Biogenesis Factor 12). Affiliated tissues include eye, and related phenotypes are malar flattening and intellectual disability

UniProtKB/Swiss-Prot : 76 Peroxisome biogenesis disorder 3B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 3b

Human phenotypes related to Peroxisome Biogenesis Disorder 3b:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 intellectual disability 33 HP:0001249
3 muscular hypotonia 33 HP:0001252
4 failure to thrive 33 HP:0001508
5 global developmental delay 33 HP:0001263
6 hepatomegaly 33 HP:0002240
7 sensorineural hearing impairment 33 HP:0000407
8 osteoporosis 33 HP:0000939
9 abnormal bleeding 33 HP:0001892
10 abnormal electroretinogram 33 HP:0000512
11 flat face 33 HP:0012368
12 depressed nasal ridge 33 HP:0000457
13 hyporeflexia 33 HP:0001265
14 rod-cone dystrophy 33 HP:0000510
15 generalized hypotonia 33 HP:0001290
16 single transverse palmar crease 33 HP:0000954
17 polyneuropathy 33 HP:0001271
18 steatorrhea 33 HP:0002570
19 hypocholesterolemia 33 HP:0003146
20 very long chain fatty acid accumulation 33 HP:0008167

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Skeletal:
osteoporosis

Head And Neck Face:
flat face
minor facial dysmorphism

Abdomen Gastrointestinal:
steatorrhea

Neurologic Central Nervous System:
developmental delay
hypotonia
mental retardation

Skin Nails Hair Skin:
simian crease

Hematology:
episodic bleeding

Abdomen Liver:
hepatomegaly

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased deep tendon reflexes

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa
abnormal erg

Laboratory Abnormalities:
hypocholesterolemia
very long chain fatty acid accumulation
phytanic acid accumulation
di- and trihydroxycholestanoic acid accumulation
pipecolic acid accumulation.
more
Head And Neck Nose:
flat nose

Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM:

266510

UMLS symptoms related to Peroxisome Biogenesis Disorder 3b:


decreased tendon reflex

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 3b

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

Genetic Tests for Peroxisome Biogenesis Disorder 3b

Anatomical Context for Peroxisome Biogenesis Disorder 3b

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

42
Eye

Publications for Peroxisome Biogenesis Disorder 3b

Variations for Peroxisome Biogenesis Disorder 3b

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

76
# Symbol AA change Variation ID SNP ID
1 PEX12 p.Ser320Phe VAR_031998 rs28936697

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3b:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX12 NM_000286.2(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh37 Chromosome 17, 33904199: 33904199
2 PEX12 NM_000286.2(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh38 Chromosome 17, 35577180: 35577180
3 PEX12 NM_000286.2(PEX12): c.949C> T (p.Leu317Phe) single nucleotide variant Uncertain significance rs61752112 GRCh37 Chromosome 17, 33902932: 33902932
4 PEX12 NM_000286.2(PEX12): c.949C> T (p.Leu317Phe) single nucleotide variant Uncertain significance rs61752112 GRCh38 Chromosome 17, 35575913: 35575913
5 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
6 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
7 PEX12 NM_000286.2(PEX12): c.894delC (p.Met300Terfs) deletion Pathogenic/Likely pathogenic rs398123302 GRCh37 Chromosome 17, 33902987: 33902987
8 PEX12 NM_000286.2(PEX12): c.894delC (p.Met300Terfs) deletion Pathogenic/Likely pathogenic rs398123302 GRCh38 Chromosome 17, 35575968: 35575968
9 PEX12 NM_000286.3(PEX12): c.-26G> A single nucleotide variant Uncertain significance rs727504080 GRCh37 Chromosome 17, 33905066: 33905066
10 PEX12 NM_000286.3(PEX12): c.-26G> A single nucleotide variant Uncertain significance rs727504080 GRCh38 Chromosome 17, 35578047: 35578047
11 PEX12 NM_000286.2(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 GRCh37 Chromosome 17, 33904403: 33904403
12 PEX12 NM_000286.2(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 GRCh38 Chromosome 17, 35577384: 35577384
13 PEX12 NM_000286.2(PEX12): c.349A> G (p.Ile117Val) single nucleotide variant Uncertain significance rs767207001 GRCh37 Chromosome 17, 33904388: 33904388
14 PEX12 NM_000286.2(PEX12): c.349A> G (p.Ile117Val) single nucleotide variant Uncertain significance rs767207001 GRCh38 Chromosome 17, 35577369: 35577369
15 PEX12 NM_000286.2(PEX12): c.353T> C (p.Met118Thr) single nucleotide variant Uncertain significance rs879075660 GRCh38 Chromosome 17, 35577365: 35577365
16 PEX12 NM_000286.2(PEX12): c.353T> C (p.Met118Thr) single nucleotide variant Uncertain significance rs879075660 GRCh37 Chromosome 17, 33904384: 33904384
17 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh38 Chromosome 17, 35576129: 35576132
18 PEX12 NM_000286.2(PEX12): c.730_733dupGCCT (p.Leu245Cysfs) duplication Pathogenic rs61752107 GRCh37 Chromosome 17, 33903148: 33903151
19 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh37 Chromosome 17, 33903194: 33903197
20 PEX12 NM_000286.2(PEX12): c.684_687delTAGT (p.Ser229Argfs) deletion Likely pathogenic rs62642859 GRCh38 Chromosome 17, 35576175: 35576178
21 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh37 Chromosome 17, 33904914: 33904914
22 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh38 Chromosome 17, 35577895: 35577895
23 PEX12 NM_000286.2(PEX12): c.368_370delTTC (p.Leu123del) deletion Uncertain significance rs751058068 GRCh37 Chromosome 17, 33904367: 33904369
24 PEX12 NM_000286.2(PEX12): c.368_370delTTC (p.Leu123del) deletion Uncertain significance rs751058068 GRCh38 Chromosome 17, 35577348: 35577350
25 PEX12 NM_000286.2(PEX12): c.533_535delAAC (p.Gln178del) deletion Pathogenic/Likely pathogenic rs61752102 GRCh38 Chromosome 17, 35577183: 35577185
26 PEX12 NM_000286.2(PEX12): c.533_535delAAC (p.Gln178del) deletion Pathogenic/Likely pathogenic rs61752102 GRCh37 Chromosome 17, 33904202: 33904204
27 PEX12 NM_000286.2(PEX12): c.1009C> T (p.Gln337Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs760739894 GRCh37 Chromosome 17, 33902872: 33902872
28 PEX12 NM_000286.2(PEX12): c.1009C> T (p.Gln337Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs760739894 GRCh38 Chromosome 17, 35575853: 35575853
29 PEX12 NM_000286.2(PEX12): c.681-2A> C single nucleotide variant Conflicting interpretations of pathogenicity rs187526749 GRCh37 Chromosome 17, 33903202: 33903202
30 PEX12 NM_000286.2(PEX12): c.681-2A> C single nucleotide variant Conflicting interpretations of pathogenicity rs187526749 GRCh38 Chromosome 17, 35576183: 35576183
31 PEX12 NM_000286.2(PEX12): c.268_271delAAGA (p.Lys90Glufs) deletion Pathogenic/Likely pathogenic rs61752100 GRCh37 Chromosome 17, 33904466: 33904469
32 PEX12 NM_000286.2(PEX12): c.268_271delAAGA (p.Lys90Glufs) deletion Pathogenic/Likely pathogenic rs61752100 GRCh38 Chromosome 17, 35577447: 35577450
33 PEX12 NM_000286.2(PEX12): c.737C> A (p.Ser246Tyr) single nucleotide variant Uncertain significance rs200413804 GRCh37 Chromosome 17, 33903144: 33903144
34 PEX12 NM_000286.2(PEX12): c.737C> A (p.Ser246Tyr) single nucleotide variant Uncertain significance rs200413804 GRCh38 Chromosome 17, 35576125: 35576125
35 PEX12 NM_000286.2(PEX12): c.204_206delTCT (p.Leu70del) deletion Uncertain significance rs61752098 GRCh38 Chromosome 17, 35577512: 35577514
36 PEX12 NM_000286.2(PEX12): c.204_206delTCT (p.Leu70del) deletion Uncertain significance rs61752098 GRCh37 Chromosome 17, 33904531: 33904533
37 PEX12 NM_000286.2(PEX12): c.978C> A (p.Tyr326Ter) single nucleotide variant Likely pathogenic rs941358133 GRCh37 Chromosome 17, 33902903: 33902903
38 PEX12 NM_000286.2(PEX12): c.978C> A (p.Tyr326Ter) single nucleotide variant Likely pathogenic rs941358133 GRCh38 Chromosome 17, 35575884: 35575884
39 PEX12 NM_000286.2(PEX12): c.961_964delGGCT (p.Gly321Metfs) deletion Likely pathogenic rs749650201 GRCh37 Chromosome 17, 33902916: 33902920
40 PEX12 NM_000286.2(PEX12): c.961_964delGGCT (p.Gly321Metfs) deletion Likely pathogenic rs749650201 GRCh38 Chromosome 17, 35575898: 35575901
41 PEX12 NM_000286.2(PEX12): c.865_870del6 (p.Asp289_Tyr290del) deletion Uncertain significance rs1366848752 GRCh37 Chromosome 17, 33903010: 33903016
42 PEX12 NM_000286.2(PEX12): c.865_870del6 (p.Asp289_Tyr290del) deletion Uncertain significance rs1366848752 GRCh38 Chromosome 17, 35575992: 35575997
43 PEX12 NM_000286.2(PEX12): c.664C> T (p.Gln222Ter) single nucleotide variant Likely pathogenic rs1555549841 GRCh37 Chromosome 17, 33904073: 33904073
44 PEX12 NM_000286.2(PEX12): c.664C> T (p.Gln222Ter) single nucleotide variant Likely pathogenic rs1555549841 GRCh38 Chromosome 17, 35577054: 35577054
45 PEX12 NM_000286.2(PEX12): c.644delC (p.Pro215Glnfs) deletion Likely pathogenic rs1199283977 GRCh37 Chromosome 17, 33904092: 33904093
46 PEX12 NM_000286.2(PEX12): c.644delC (p.Pro215Glnfs) deletion Likely pathogenic rs1199283977 GRCh38 Chromosome 17, 35577074: 35577074
47 PEX12 NM_000286.2(PEX12): c.460C> T (p.Arg154Ter) single nucleotide variant Likely pathogenic rs1555549855 GRCh37 Chromosome 17, 33904277: 33904277
48 PEX12 NM_000286.2(PEX12): c.460C> T (p.Arg154Ter) single nucleotide variant Likely pathogenic rs1555549855 GRCh38 Chromosome 17, 35577258: 35577258
49 PEX12 NM_000286.2(PEX12): c.211C> T (p.Gln71Ter) single nucleotide variant Likely pathogenic rs767447750 GRCh37 Chromosome 17, 33904526: 33904526
50 PEX12 NM_000286.2(PEX12): c.211C> T (p.Gln71Ter) single nucleotide variant Likely pathogenic rs767447750 GRCh38 Chromosome 17, 35577507: 35577507

Expression for Peroxisome Biogenesis Disorder 3b

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

Pathways for Peroxisome Biogenesis Disorder 3b

GO Terms for Peroxisome Biogenesis Disorder 3b

Sources for Peroxisome Biogenesis Disorder 3b

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