PBD3B
MCID: PRX066
MIFTS: 26

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 56 73 13 71
Pbd3b 56 73
Peroxisome Biogenesis Disorder, Type 3b 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset


HPO:

31
peroxisome biogenesis disorder 3b:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Peroxisome Biogenesis Disorder 3b

OMIM : 56 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 intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 73 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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 hepatomegaly 31 HP:0002240
4 muscular hypotonia 31 HP:0001252
5 sensorineural hearing impairment 31 HP:0000407
6 failure to thrive 31 HP:0001508
7 abnormal electroretinogram 31 HP:0000512
8 flat face 31 HP:0012368
9 osteoporosis 31 HP:0000939
10 depressed nasal ridge 31 HP:0000457
11 malar flattening 31 HP:0000272
12 hyporeflexia 31 HP:0001265
13 abnormal bleeding 31 HP:0001892
14 very long chain fatty acid accumulation 31 HP:0008167
15 steatorrhea 31 HP:0002570
16 hypocholesterolemia 31 HP:0003146
17 rod-cone dystrophy 31 HP:0000510
18 single transverse palmar crease 31 HP:0000954
19 polyneuropathy 31 HP:0001271
20 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased deep tendon reflexes

Skeletal:
osteoporosis

Abdomen Gastrointestinal:
steatorrhea

Neurologic Central Nervous System:
hypotonia
developmental delay
mental retardation

Head And Neck Nose:
flat nose

Hematology:
episodic bleeding

Growth Other:
failure to thrive

Head And Neck Face:
flat face
minor facial dysmorphism

Laboratory Abnormalities:
very long chain fatty acid accumulation
hypocholesterolemia
phytanic acid accumulation
di- and trihydroxycholestanoic acid accumulation
pipecolic acid accumulation.
more
Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa
abnormal erg

Head And Neck Ears:
sensorineural deafness

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:

40
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. 56
22871920 2012
2
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 56
15184617 2004
3
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 56
14571262 2004
4
Zellweger Spectrum Disorder 6
20301621 2003
5
Heterogeneity in di/trihydroxycholestanoic acidaemia. 56
8060102 1994
6
A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency. 56
2122101 1990

Variations for Peroxisome Biogenesis Disorder 3b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3b:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX12 NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)SNV Pathogenic 551647 rs61752105 17:33904133-33904133 17:35577114-35577114
2 PEX12 NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)SNV Pathogenic 7774 rs61752103 17:33904199-33904199 17:35577180-35577180
3 PEX12 NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs)short repeat Pathogenic 92776 rs398123301 17:33902992-33902993 17:35575973-35575974
4 PEX12 NM_000286.3(PEX12):c.126+1G>TSNV Pathogenic 371718 rs144259891 17:33904914-33904914 17:35577895-35577895
5 PEX12 NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)duplication Pathogenic/Likely pathogenic 371737 rs61752107 17:33903147-33903148 17:35576128-35576129
6 PEX12 NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)deletion Pathogenic/Likely pathogenic 92777 rs398123302 17:33902987-33902987 17:35575968-35575968
7 PEX12 NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)SNV Pathogenic/Likely pathogenic 191074 rs776731688 17:33904403-33904403 17:35577384-35577384
8 PEX12 NM_000286.3(PEX12):c.744dup (p.Thr249fs)duplication Pathogenic/Likely pathogenic 553741 rs61752108 17:33903136-33903137 17:35576117-35576118
9 PEX12 NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)SNV Pathogenic/Likely pathogenic 555548 rs61752106 17:33904112-33904112 17:35577093-35577093
10 PEX12 NM_000286.3(PEX12):c.268_271del (p.Lys90fs)deletion Pathogenic/Likely pathogenic 501646 rs61752100 17:33904466-33904469 17:35577447-35577450
11 PEX12 NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del)short repeat Likely pathogenic 437449 rs61752102 17:33904202-33904204 17:35577183-35577185
12 PEX12 NM_000286.3(PEX12):c.781del (p.Asp262fs)deletion Likely pathogenic 553270 rs754193088 17:33903100-33903100 17:35576081-35576081
13 PEX12 NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)SNV Likely pathogenic 550907 rs888633730 17:33904992-33904992 17:35577973-35577973
14 PEX12 NM_000286.3(PEX12):c.687_690del (p.Ser229fs)deletion Likely pathogenic 552278 rs1555549769 17:33903191-33903194 17:35576172-35576175
15 PEX12 NM_000286.3(PEX12):c.680+1G>ASNV Likely pathogenic 558363 rs904972651 17:33904056-33904056 17:35577037-35577037
16 PEX12 NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)inversion Likely pathogenic 552799 rs1555549862 17:33904306-33904308 17:35577287-35577289
17 PEX12 NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)SNV Likely pathogenic 552699 rs1555549841 17:33904073-33904073 17:35577054-35577054
18 PEX12 NM_000286.3(PEX12):c.644del (p.Pro215fs)deletion Likely pathogenic 556886 rs1199283977 17:33904093-33904093 17:35577074-35577074
19 PEX12 NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)SNV Likely pathogenic 551612 rs1555549855 17:33904277-33904277 17:35577258-35577258
20 PEX12 NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)SNV Likely pathogenic 551127 rs767447750 17:33904526-33904526 17:35577507-35577507
21 PEX12 NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)SNV Likely pathogenic 551557 rs747099919 17:33903092-33903092 17:35576073-35576073
22 PEX12 NM_000286.3(PEX12):c.88_89del (p.Met30fs)deletion Likely pathogenic 556965 rs1555549909 17:33904952-33904953 17:35577933-35577934
23 PEX12 NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)duplication Likely pathogenic 553017 rs1238451790 17:33904964-33904965 17:35577945-35577946
24 PEX12 NM_000286.3(PEX12):c.1044_1046ACA[1] (p.Gln349del)short repeat Likely pathogenic 556045 rs267608184 17:33902832-33902834 17:35575813-35575815
25 PEX12 NM_000286.3(PEX12):c.771del (p.Leu258fs)deletion Likely pathogenic 553650 rs1555549754 17:33903110-33903110 17:35576091-35576091
26 PEX12 NM_000286.3(PEX12):c.223_224del (p.Leu75fs)deletion Likely pathogenic 550148 rs1555549876 17:33904513-33904514 17:35577494-35577495
27 PEX12 NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)SNV Likely pathogenic 554388 rs765404768 17:33904515-33904515 17:35577496-35577496
28 PEX12 NM_000286.3(PEX12):c.190_194del (p.Thr64fs)deletion Likely pathogenic 553579 rs1214971073 17:33904543-33904547 17:35577524-35577528
29 PEX12 NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)SNV Likely pathogenic 552325 rs941358133 17:33902903-33902903 17:35575884-35575884
30 PEX12 NM_000286.3(PEX12):c.961_964del (p.Gly321fs)deletion Likely pathogenic 558619 rs749650201 17:33902917-33902920 17:35575898-35575901
31 PEX12 NM_000286.3(PEX12):c.126+2T>ASNV Likely pathogenic 555306 rs1555549902 17:33904913-33904913 17:35577894-35577894
32 PEX12 NM_000286.3(PEX12):c.1_2del (p.Met1fs)deletion Likely pathogenic 556743 rs1555549923 17:33905039-33905040 17:35578020-35578021
33 PEX12 NM_000286.3(PEX12):c.684_687del (p.Ser229fs)deletion Likely pathogenic 371738 rs62642859 17:33903194-33903197 17:35576175-35576178
34 PEX12 NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del)short repeat Conflicting interpretations of pathogenicity 377276 rs751058068 17:33904367-33904369 17:35577348-35577350
35 PEX12 NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)SNV Conflicting interpretations of pathogenicity 451464 rs760739894 17:33902872-33902872 17:35575853-35575853
36 PEX12 NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)SNV Uncertain significance 502684 rs200413804 17:33903144-33903144 17:35576125-35576125
37 PEX12 NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del)short repeat Uncertain significance 548532 rs61752098 17:33904531-33904533 17:35577512-35577514
38 PEX12 NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)deletion Uncertain significance 553959 rs1458853023 17:33904337-33904345 17:35577318-35577326
39 PEX12 NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)deletion Uncertain significance 550582 rs759584047 17:33903094-33903096 17:35576075-35576077
40 PEX12 NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs)short repeat Uncertain significance 557980 rs764657253 17:33902893-33902894 17:35575874-35575875
41 PEX12 NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)deletion Uncertain significance 552385 rs1366848752 17:33903011-33903016 17:35575992-35575997
42 PEX12 NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)deletion Uncertain significance 556362 rs1555549722 17:33902810-33902811 17:35575791-35575792
43 PEX12 NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys)duplication Uncertain significance 550849 rs1412916235 17:33904552-33904553 17:35577533-35577534
44 PEX12 NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)deletion Uncertain significance 556466 rs1555549917 17:33905000-33905023 17:35577981-35578004
45 PEX12 NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)SNV Uncertain significance 7779 rs61752112 17:33902932-33902932 17:35575913-35575913
46 PEX12 NM_000286.3(PEX12):c.1023del (p.Thr342fs)deletion Uncertain significance 555446 rs1555549723 17:33902858-33902858 17:35575839-35575839
47 PEX12 NM_000286.3(PEX12):c.349A>G (p.Ile117Val)SNV Uncertain significance 283389 rs767207001 17:33904388-33904388 17:35577369-35577369
48 PEX12 NM_000286.3(PEX12):c.353T>C (p.Met118Thr)SNV Uncertain significance 322653 rs879075660 17:33904384-33904384 17:35577365-35577365
49 PEX12 NM_000286.3(PEX12):c.-26G>ASNV Uncertain significance 167450 rs727504080 17:33905066-33905066 17:35578047-35578047
50 PEX12 NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)SNV Benign/Likely benign 92773 rs147530802 17:33904939-33904939 17:35577920-35577920

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

73
# 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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7 CNVD
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