Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/256600
http://purl.bioontology.org/ontology/OMIM/256600
|
|---|---|
| Preferred Name | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A |
| Synonyms |
SEITELBERGER DISEASE
NBIA2A
NEUROAXONAL DYSTROPHY, INFANTILE
PLAN
INAD1
NEURODEGENERATION, PLA2G6-ASSOCIATED
INAD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SEITELBERGER DISEASE
NBIA2A
NEUROAXONAL DYSTROPHY, INFANTILE
PLAN
INAD1
NEURODEGENERATION, PLA2G6-ASSOCIATED
INAD
See more
See less
|
|---|---|
| prefLabel | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
|
| Gene Symbol |
PARK14
PLA2G6
IPLA2
NBIA2A
INAD1
NBIA2B
See more
See less
|
| Scope Statement | Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0001) [MOLECULAR BASIS]
Phenotypic overlap with PKAN neuroaxonal dystrophy (NBIA1, 234200) [MISCELLANEOUS]
Death usually by age 10 years [MISCELLANEOUS]
Onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') [MISCELLANEOUS]
Allelic disorder to neurodegeneration with brain iron accumulation 2B (NBIA2B, 610217) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 22q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 256600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0270724
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |