Amyotrophy, hereditary neuralgic

Preferred Label : Amyotrophy, hereditary neuralgic;

Symbol : HNA;

CISMeF acronym : HNA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Neuritis with brachial predilection; Brachial plexus neuropathy, hereditary; NAPB;

Description : Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the septin 9 gene (SEPT9, 604061.0001);

Prefixed ID : #162100;

Details

Origin ID

162100;

UMLS CUI

C1834304;

Automatic exact mappings (from CISMeF team)
- HNA [LOINC Class]
- Hereditary neuralgic amyotrophy [ICD-11 More detail]
- SEPTIN9 wt Allele [NCIt concept]
- human neutrophil antigen [Blood Transfusion thesaurus concept]
- sodium hydride [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Neuralgic amyotrophy [ORDO Disease]
- brachial plexus neuritis [MeSH Descriptor]
- hereditary brachial plexus neuropathy [MeSH concept]
DO Cross reference
- amyotrophic neuralgia [DO Concept]
Genes related to phenotype
- Septin 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration [HPO term]
- Blepharophimosis [HPO term]
- Brachial plexus neuropathy [HPO term]
- Cleft palate [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Flattened nasal bridge [HPO term]
- Hyporeflexia [HPO term]
- Hypotelorism [HPO term]
- Long nasal bridge [HPO term]
- Low-set ears [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Nerve biopsy of affected region may show axonal degeneration [HPO term]
- Peripheral axonal degeneration [HPO term]
- Peripheral neuropathy [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Neuralgic amyotrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary brachial plexus neuropathy [MeSH concept]

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