PBD3B
MCID: PRX066
MIFTS: 25

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 57 74 13 72
Pbd3b 57 74
Peroxisome Biogenesis Disorder, Type 3b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset


HPO:

32
peroxisome biogenesis disorder 3b:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D052919
MedGen 42 C3550693
UMLS 72 C3550693

Summaries for Peroxisome Biogenesis Disorder 3b

OMIM : 57 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 liver, and related phenotypes are malar flattening and intellectual disability

UniProtKB/Swiss-Prot : 74 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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 hepatomegaly 32 HP:0002240
7 sensorineural hearing impairment 32 HP:0000407
8 osteoporosis 32 HP:0000939
9 abnormal bleeding 32 HP:0001892
10 generalized hypotonia 32 HP:0001290
11 abnormal electroretinogram 32 HP:0000512
12 flat face 32 HP:0012368
13 depressed nasal ridge 32 HP:0000457
14 hyporeflexia 32 HP:0001265
15 rod-cone dystrophy 32 HP:0000510
16 very long chain fatty acid accumulation 32 HP:0008167
17 single transverse palmar crease 32 HP:0000954
18 polyneuropathy 32 HP:0001271
19 steatorrhea 32 HP:0002570
20 hypocholesterolemia 32 HP:0003146

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skeletal:
osteoporosis

Head And Neck Face:
flat face
minor facial dysmorphism

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa
abnormal erg

Head And Neck Ears:
sensorineural deafness

Head And Neck Nose:
flat nose

Hematology:
episodic bleeding

Abdomen Liver:
hepatomegaly

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased deep tendon reflexes

Laboratory Abnormalities:
very long chain fatty acid accumulation
hypocholesterolemia
phytanic acid accumulation
di- and trihydroxycholestanoic acid accumulation
pipecolic acid accumulation.
more
Abdomen Gastrointestinal:
steatorrhea

Neurologic Central Nervous System:
developmental delay
hypotonia
mental retardation

Skin Nails Hair Skin:
simian crease

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:

41
Liver

Publications for Peroxisome Biogenesis Disorder 3b

Articles related to Peroxisome Biogenesis Disorder 3b:

# Title Authors PMID Year
1
Genetics and molecular basis of human peroxisome biogenesis disorders. 8
22871920 2012
2
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 8
15184617 2004
3
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 8
14571262 2004
4
Zellweger Spectrum Disorder 71
20301621 2003
5
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 71
12402331 2002
6
Heterogeneity in di/trihydroxycholestanoic acidaemia. 8
8060102 1994
7
A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency. 8
2122101 1990

Variations for Peroxisome Biogenesis Disorder 3b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3b:

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PEX12 NM_000286.3(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 17:33904914-33904914 17:35577895-35577895
2 PEX12 NM_000286.3(PEX12): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs61752105 17:33904133-33904133 17:35577114-35577114
3 PEX12 NM_000286.3(PEX12): c.744dup (p.Thr249fs) duplication Pathogenic rs61752108 17:33903136-33903136 17:35576118-35576118
4 PEX12 NM_000286.3(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 17:33904199-33904199 17:35577180-35577180
5 PEX12 NM_000286.3(PEX12): c.886_887CT[1] (p.Leu297fs) short repeat Pathogenic rs398123301 17:33902992-33902993 17:35575973-35575974
6 PEX12 NM_000286.3(PEX12): c.894del (p.Lys299_Met300insTer) deletion Pathogenic/Likely pathogenic rs398123302 17:33902987-33902987 17:35575968-35575968
7 PEX12 NM_000286.3(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 17:33904403-33904403 17:35577384-35577384
8 PEX12 NM_000286.3(PEX12): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61752106 17:33904112-33904112 17:35577093-35577093
9 PEX12 NM_000286.3(PEX12): c.730_733dup (p.Leu245fs) duplication Pathogenic/Likely pathogenic rs61752107 17:33903148-33903151 17:35576129-35576132
10 PEX12 NM_000286.3(PEX12): c.530_532AAC[1] (p.Gln178del) short repeat Pathogenic/Likely pathogenic rs61752102 17:33904202-33904204 17:35577183-35577185
11 PEX12 NM_000286.3(PEX12): c.268_271del (p.Lys90fs) deletion Pathogenic/Likely pathogenic rs61752100 17:33904466-33904469 17:35577447-35577450
12 PEX12 NM_000286.3(PEX12): c.684_687del (p.Ser229fs) deletion Likely pathogenic rs62642859 17:33903194-33903197 17:35576175-35576178
13 PEX12 NM_000286.3(PEX12): c.664C> T (p.Gln222Ter) single nucleotide variant Likely pathogenic rs1555549841 17:33904073-33904073 17:35577054-35577054
14 PEX12 NM_000286.3(PEX12): c.644del (p.Pro215fs) deletion Likely pathogenic rs1199283977 17:33904092-33904093 17:35577074-35577074
15 PEX12 NM_000286.3(PEX12): c.460C> T (p.Arg154Ter) single nucleotide variant Likely pathogenic rs1555549855 17:33904277-33904277 17:35577258-35577258
16 PEX12 NM_000286.3(PEX12): c.211C> T (p.Gln71Ter) single nucleotide variant Likely pathogenic rs767447750 17:33904526-33904526 17:35577507-35577507
17 PEX12 NM_000286.3(PEX12): c.789G> A (p.Trp263Ter) single nucleotide variant Likely pathogenic rs747099919 17:33903092-33903092 17:35576073-35576073
18 PEX12 NM_000286.3(PEX12): c.88_89del (p.Met30fs) deletion Likely pathogenic rs1555549909 17:33904951-33904953 17:35577933-35577934
19 PEX12 NM_000286.3(PEX12): c.69_76dup (p.Gln26delinsArgTer) duplication Likely pathogenic rs1238451790 17:33904964-33904964 17:35577946-35577953
20 PEX12 NM_000286.3(PEX12): c.1044_1046ACA[1] (p.Gln349del) short repeat Likely pathogenic rs267608184 17:33902831-33902834 17:35575813-35575815
21 PEX12 NM_000286.3(PEX12): c.223_224del (p.Leu75fs) deletion Likely pathogenic rs1555549876 17:33904512-33904514 17:35577494-35577495
22 PEX12 NM_000286.3(PEX12): c.222T> A (p.Tyr74Ter) single nucleotide variant Likely pathogenic rs765404768 17:33904515-33904515 17:35577496-35577496
23 PEX12 NM_000286.3(PEX12): c.190_194del (p.Thr64fs) deletion Likely pathogenic rs1214971073 17:33904542-33904547 17:35577524-35577528
24 PEX12 NM_000286.3(PEX12): c.781del (p.Asp262fs) deletion Likely pathogenic rs754193088 17:33903099-33903100 17:35576081-35576081
25 PEX12 NM_000286.3(PEX12): c.49C> T (p.Gln17Ter) single nucleotide variant Likely pathogenic rs888633730 17:33904992-33904992 17:35577973-35577973
26 PEX12 NM_000286.3(PEX12): c.687_690del (p.Ser229fs) deletion Likely pathogenic rs1555549769 17:33903190-33903194 17:35576172-35576175
27 PEX12 NM_000286.3(PEX12): c.680+1G> A single nucleotide variant Likely pathogenic rs904972651 17:33904056-33904056 17:35577037-35577037
28 PEX12 NM_000286.3(PEX12): c.429_431inv (p.Tyr143_Ser144delinsTer) inversion Likely pathogenic rs1555549862 17:33904305-33904308 17:35577287-35577289
29 PEX12 NM_000286.3(PEX12): c.978C> A (p.Tyr326Ter) single nucleotide variant Likely pathogenic rs941358133 17:33902903-33902903 17:35575884-35575884
30 PEX12 NM_000286.3(PEX12): c.961_964del (p.Gly321fs) deletion Likely pathogenic rs749650201 17:33902916-33902920 17:35575898-35575901
31 PEX12 NM_000286.3(PEX12): c.126+2T> A single nucleotide variant Likely pathogenic rs1555549902 17:33904913-33904913 17:35577894-35577894
32 PEX12 NM_000286.3(PEX12): c.1_2del (p.Met1fs) deletion Likely pathogenic rs1555549923 17:33905038-33905040 17:35578020-35578021
33 PEX12 NM_000286.3(PEX12): c.771del (p.Leu258fs) deletion Likely pathogenic rs1555549754 17:33903109-33903110 17:35576091-35576091
34 PEX12 NM_000286.3(PEX12): c.1009C> T (p.Gln337Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs760739894 17:33902872-33902872 17:35575853-35575853
35 PEX12 NM_000286.3(PEX12): c.681-2A> C single nucleotide variant Conflicting interpretations of pathogenicity rs187526749 17:33903202-33903202 17:35576183-35576183
36 PEX12 NM_000286.3(PEX12): c.737C> A (p.Ser246Tyr) single nucleotide variant Uncertain significance rs200413804 17:33903144-33903144 17:35576125-35576125
37 PEX12 NM_000286.3(PEX12): c.201_203TCT[1] (p.Leu70del) short repeat Uncertain significance rs61752098 17:33904531-33904533 17:35577512-35577514
38 PEX12 NM_000286.3(PEX12): c.362_364TTC[2] (p.Leu123del) short repeat Uncertain significance rs751058068 17:33904367-33904369 17:35577348-35577350
39 PEX12 NM_000286.3(PEX12): c.785_787del (p.Asp262_Trp263delinsGly) deletion Uncertain significance rs759584047 17:33903093-33903096 17:35576075-35576077
40 PEX12 NM_000286.3(PEX12): c.983_984GT[2] (p.Phe330fs) short repeat Uncertain significance rs764657253 17:33902892-33902894 17:35575874-35575875
41 PEX12 NM_000286.3(PEX12): c.865_870del (p.Asp289_Tyr290del) deletion Uncertain significance rs1366848752 17:33903010-33903016 17:35575992-35575997
42 PEX12 NM_000286.3(PEX12): c.392_400del (p.Glu131_Leu133del) deletion Uncertain significance rs1458853023 17:33904336-33904345 17:35577318-35577326
43 PEX12 NM_000286.3(PEX12): c.1070_1071del (p.Pro357fs) deletion Uncertain significance rs1555549722 17:33902809-33902811 17:35575791-35575792
44 PEX12 NM_000286.3(PEX12): c.1023del (p.Thr342fs) deletion Uncertain significance rs1555549723 17:33902857-33902858 17:35575839-35575839
45 PEX12 NM_000286.3(PEX12): c.182_184dup (p.Ile62_Phe63insLys) duplication Uncertain significance rs1412916235 17:33904552-33904552 17:35577534-35577536
46 PEX12 NM_000286.3(PEX12): c.18_41del (p.His7_Ala14del) deletion Uncertain significance rs1555549917 17:33904999-33905023 17:35577981-35578004
47 PEX12 NM_000286.3(PEX12): c.949C> T (p.Leu317Phe) single nucleotide variant Uncertain significance rs61752112 17:33902932-33902932 17:35575913-35575913
48 PEX12 NM_000286.3(PEX12): c.349A> G (p.Ile117Val) single nucleotide variant Uncertain significance rs767207001 17:33904388-33904388 17:35577369-35577369
49 PEX12 NM_000286.3(PEX12): c.-26G> A single nucleotide variant Uncertain significance rs727504080 17:33905066-33905066 17:35578047-35578047
50 PEX12 NM_000286.3(PEX12): c.353T> C (p.Met118Thr) single nucleotide variant Uncertain significance rs879075660 17:33904384-33904384 17:35577365-35577365

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

74
# Symbol AA change Variation ID SNP ID
1 PEX12 p.Ser320Phe VAR_031998 rs28936697

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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