Entry - #202370 - PEROXISOME BIOGENESIS DISORDER 2B; PBD2B - OMIM

 
ICD+
# 202370

PEROXISOME BIOGENESIS DISORDER 2B; PBD2B


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12p13.31 Peroxisome biogenesis disorder 2B 202370 AR 3 PEX5 600414
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal recessive
HEAD & NECK
Head
- Dolichocephaly
- Prominent forehead
- High forehead
Face
- Peculiar facies
Ears
- Low-set ears
Eyes
- Cataracts, neonatal polar
- Esotropia
- Epicanthal folds
Nose
- Nasal bridge broad
- Anteverted nostrils
Mouth
- Palate high-arched
NEUROLOGIC
Central Nervous System
- Mental retardation
- Seizures
ENDOCRINE FEATURES
- Adrenal insufficiency
LABORATORY ABNORMALITIES
- Elevated long chain fatty acids Caused by mutation in the peroxisome biogenesis factor 5 gene (PEX5, 600414.0001)
▲ Close
Peroxisome biogenesis disorder - PS214100 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32 Peroxisome biogenesis disorder 6B AR 3 614871 PEX10 602859
1p36.32 Peroxisome biogenesis disorder 6A (Zellweger) AR 3 614870 PEX10 602859
1p36.22 Peroxisome biogenesis disorder 13A (Zellweger) AR 3 614887 PEX14 601791
1q21.1 Peroxisome biogenesis disorder 14B AR 3 614920 PEX11B 603867
1q23.2 Peroxisome biogenesis disorder 12A (Zellweger) AR 3 614886 PEX19 600279
2p15 Peroxisome biogenesis disorder 11A (Zellweger) AR 3 614883 PEX13 601789
2p15 Peroxisome biogenesis disorder 11B AR 3 614885 PEX13 601789
6p21.1 Peroxisome biogenesis disorder 4B AD, AR 3 614863 PEX6 601498
6p21.1 Peroxisome biogenesis disorder 4A (Zellweger) AR 3 614862 PEX6 601498
6p21.1 Heimler syndrome 2 AR 3 616617 PEX6 601498
6q23.3 Rhizomelic chondrodysplasia punctata, type 1 AR 3 215100 PEX7 601757
6q23.3 Peroxisome biogenesis disorder 9B AR 3 614879 PEX7 601757
6q24.2 Peroxisome biogenesis disorder 10A (Zellweger) AR 3 614882 PEX3 603164
6q24.2 ?Peroxisome biogenesis disorder 10B AR 3 617370 PEX3 603164
7q21.2 Peroxisome biogenesis disorder 1B (NALD/IRD) AR 3 601539 PEX1 602136
7q21.2 Peroxisome biogenesis disorder 1A (Zellweger) AR 3 214100 PEX1 602136
7q21.2 Heimler syndrome 1 AR 3 234580 PEX1 602136
8q21.13 Peroxisome biogenesis disorder 5A (Zellweger) AR 3 614866 PEX2 170993
8q21.13 Peroxisome biogenesis disorder 5B AR 3 614867 PEX2 170993
11p11.2 Peroxisome biogenesis disorder 8B AR 3 614877 PEX16 603360
11p11.2 Peroxisome biogenesis disorder 8A (Zellweger) AR 3 614876 PEX16 603360
12p13.31 Peroxisome biogenesis disorder 2A (Zellweger) AR 3 214110 PEX5 600414
12p13.31 Peroxisome biogenesis disorder 2B AR 3 202370 PEX5 600414
17q12 Peroxisome biogenesis disorder 3B AR 3 266510 PEX12 601758
17q12 Peroxisome biogenesis disorder 3A (Zellweger) AR 3 614859 PEX12 601758
22q11.21 Peroxisome biogenesis disorder 7B AR 3 614873 PEX26 608666
22q11.21 Peroxisome biogenesis disorder 7A (Zellweger) AR 3 614872 PEX26 608666
▲ Close

▼ TEXT

A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD2B) is caused by homozygous mutation in the PEX5 gene (600414) on chromosome 12p13.3. Mutations in the PEX5 gene also cause Zellweger syndrome (PBD2A; 214110).

▼ Description

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 PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see 214100.

▼ Molecular Genetics

Dodt et al. (1995) reported a homozygous mutation in the PEX5 gene in a cell line from a patient with NALD (600414.0001).


▼ REFERENCES

  1. Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D., Gould, S. J. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet. 9: 115-125, 1995. [PubMed: 7719337, related citations] [Full Text]

  2. Waterham, H. R., Ebberink, M. S. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim. Biophys. Acta 1822: 1430-1441, 2012. [PubMed: 22871920, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
alopez : 10/26/2012
alopez : 10/24/2012
wwang : 5/29/2007
terry : 4/6/2005
mgross : 5/18/2004
tkritzer : 4/8/2003
carol : 8/26/1999
alopez : 7/17/1998
terry : 7/17/1998
mark : 12/10/1997
mimadm : 11/12/1995
carol : 2/16/1995
warfield : 4/14/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989

# 202370

PEROXISOME BIOGENESIS DISORDER 2B; PBD2B


ORPHA: 44, 772, 79189;   DO: 0080622;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12p13.31 Peroxisome biogenesis disorder 2B 202370 Autosomal recessive 3 PEX5 600414

TEXT

A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD2B) is caused by homozygous mutation in the PEX5 gene (600414) on chromosome 12p13.3. Mutations in the PEX5 gene also cause Zellweger syndrome (PBD2A; 214110).

Description

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 PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see 214100.

Molecular Genetics

Dodt et al. (1995) reported a homozygous mutation in the PEX5 gene in a cell line from a patient with NALD (600414.0001).


REFERENCES

  1. Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D., Gould, S. J. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet. 9: 115-125, 1995. [PubMed: 7719337] [Full Text: https://doi.org/10.1038/ng0295-115]

  2. Waterham, H. R., Ebberink, M. S. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim. Biophys. Acta 1822: 1430-1441, 2012. [PubMed: 22871920] [Full Text: https://doi.org/10.1016/j.bbadis.2012.04.006]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
alopez : 10/26/2012
alopez : 10/24/2012
wwang : 5/29/2007
terry : 4/6/2005
mgross : 5/18/2004
tkritzer : 4/8/2003
carol : 8/26/1999
alopez : 7/17/1998
terry : 7/17/1998
mark : 12/10/1997
mimadm : 11/12/1995
carol : 2/16/1995
warfield : 4/14/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025