Neurodegeneration with brain iron accumulation 6

Preferred Label : Neurodegeneration with brain iron accumulation 6;

Symbol : NBIA6;

CISMeF acronym : NBIA6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coenzyme A synthase gene (COASY, 609855.0001);

Prefixed ID : #615643;

Details

Origin ID

615643;

UMLS CUI

C4517377;

Automatic exact mappings (from CISMeF team)
- COASY protein-associated neurodegeneration [ORDO Disease]
CISMeF manual mappings
- neurodegeneration with brain iron accumulation 6 [DO Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 6 [DO Concept]
Genes related to phenotype
- Coenzyme a synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Depression [HPO term]
- Developmental regression [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Mental deterioration [HPO term]
- Motor axonal neuropathy [HPO term]
- Neurodegeneration [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Oromandibular dystonia [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Spastic paraparesis [HPO term]
- Spastic tetraplegia [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
ORDO concept(s)
- COASY protein-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coenzyme A synthase protein associated neurodegeneration (disorder) [SNOMED CT concept]
- neurodegeneration with brain iron accumulation 6 [DO Concept]

Keyword's position in hierarchy(ies) :

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