Neurodegeneration with brain iron accumulation 4

Preferred Label : Neurodegeneration with brain iron accumulation 4;

Symbol : NBIA4;

CISMeF acronym : MPAN; NBIA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MPAN; Mitochondrial protein-associated neurodegeneration;

Description : Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012) For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the chromosome 19 open reading frame 12 gene (C19ORF12, 614297.0001);

Laboratory abnormalities : Increased serum creatine kinase, mild;

Prefixed ID : #614298;

Details

Origin ID

614298;

UMLS CUI

C3280371;

Automatic exact mappings (from CISMeF team)
- WD repeat domain 45 [ORDO Gene]
- chromosome 19 open reading frame 12 [ORDO Gene]
- chromosome 19 open reading frame 12 [HGNC gene]
Currated CISMeF NLP mapping
- Mitochondrial membrane protein associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with Brain Iron Accumulation 4 [NCIt concept]
- neurodegeneration with brain iron accumulation 4 [DO Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 4 [DO Concept]
Genes related to phenotype
- Chromosome 19 open reading frame 12 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Emotional lability [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Impulsivity [HPO term]
- Lewy bodies [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Optic atrophy [HPO term]
- Oromandibular dystonia [HPO term]
- Parkinsonism [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Progressive visual loss [HPO term]
- Scapular winging [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]
See also inter- (CISMeF)
- Beta-propeller protein-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial membrane protein associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with Brain Iron Accumulation 4 [NCIt concept]
- neurodegeneration with brain iron accumulation 4 [DO Concept]
Validated automatic mappings to NTBT
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]

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