Phenotypic Series - PS214100 - OMIM

Phenotypic Series - PS214100


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



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.

Phenotypic Series - PS214100


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



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.


Inheritance Abbreviations
?AD ?Autosomal dominant
?XLR ?X-linked recessive
AD Autosomal dominant
AR Autosomal recessive
PD Pseudoautosomal dominant
PR Pseudoautosomal recessive
DD Digenic dominant
DR Digenic recessive
ICB Inherited chromosomal imbalance
IC Isolated cases
Mi Mitochondrial
Mu Multifactorial
SMo Somatic mosaicism
SMu Somatic mutation
XL X-linked
XLD X-linked dominant
XLR X-linked recessive
YL Y-linked


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® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: April 27, 2024