GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Peroxisome Biogenesis Disorder(Neonatal adrenoleukodystrophy)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 PEX26/55670 peroxisomal biogenesis factor 26 22q11.21 Chr22, NC_000022.11
(18077990..18105396)
27407 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 PEX16/9409 peroxisomal biogenesis factor 16 11p11.2 Chr11, NC_000011.10
(45909663..45918822, complement)
9160 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 PEX3/8504 peroxisomal biogenesis factor 3 6q24.2 Chr6, NC_000006.12
(143450805..143490616)
39812 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 PEX10/5192 peroxisomal biogenesis factor 10 1p36.32 Chr1, NC_000001.11
(2403974..2413827, complement)
9854 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 PEX1/5189 peroxisomal biogenesis factor 1 7q21.2 Chr7, NC_000007.14
(92487025..92528520, complement)
41496 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 PEX14/5195 peroxisomal biogenesis factor 14 1p36.22 Chr1, NC_000001.11
(10474950..10630758)
155809 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 PEX13/5194 peroxisomal biogenesis factor 13 2p15 Chr2, NC_000002.12
(61017720..61051990)
34271 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 PEX12/5193 peroxisomal biogenesis factor 12 17q12 Chr17, NC_000017.11
(35574795..35578571, complement)
3777 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 PEX7/5191 peroxisomal biogenesis factor 7 6q23.3 Chr6, NC_000006.12
(136822592..136913934)
91343 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 PEX6/5190 peroxisomal biogenesis factor 6 6p21.1 Chr6, NC_000006.12
(42963865..42979181, complement)
15317 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

11 PEX5/5830 peroxisomal biogenesis factor 5 12p13.31 Chr12, NC_000012.12
(7188653..7218574)
29922 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

12 PEX2/5828 peroxisomal biogenesis factor 2 8q21.13 Chr8, NC_000008.11
(76980258..77001044, complement)
20787 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

13 PEX19/5824 peroxisomal biogenesis factor 19 1q23.2 Chr1, NC_000001.11
(160276807..160285151, complement)
8345 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

14 PEX11B/8799 peroxisomal biogenesis factor 11 beta 1q21.1 Chr1, NC_000001.11
(145911348..145918717, complement)
7370 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development