Spinal and bulbar muscular atrophy, X-linked 1

Preferred Label : Spinal and bulbar muscular atrophy, X-linked 1;

Symbol : SMAX1;

CISMeF acronym : KD; SBMA; SMAX1; XBSN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : KD; SBMA; XBSN; Bulbospinal neuronopathy, X-linked recessive; Spinal and bulbar muscular atrophy; Bulbospinal muscular atrophy, X-linked; Kennedy disease; Kennedy spinal and bulbar muscular atrophy;

Description : Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; 253300).;

Inheritance : X-linked recessive;

Molecular basis : Caused by a trinucleotide repeat expansion CAG(n) in the androgen receptor gene (AR, 313700.0014);

Laboratory abnormalities : Increased serum creatine kinase; Decreased or increased serum testosterone; Abnormal lipid profile;

Prefixed ID : #313200;

Details

Origin ID

313200;

UMLS CUI

C1839259;

Automatic exact mappings (from CISMeF team)
- Bulbospinal neuronopathy, X-linked recessive [MeSH concept]
- androgen receptor [ORDO Gene]
- androgen receptor [HGNC gene]
- bulbospinal neuronopathy, X-linked recessive [MeSH Supplementary Concept]
- muscular disorders, atrophic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
- Bulbo-Spinal atrophy, X-Linked [MeSH Descriptor]
- Bulbospinal neuronopathy (disorder) [SNOMED CT concept]
- Foster-Kennedy Syndrome [MedDRA Preferred Term]
- Kennedy disease [ORDO Disease]
- Kennedy syndrome [Disease (Nov.)]
- Kennedy's disease [MedDRA LLT]
- Kennedy's disease [PASCAL descriptor]
- Kennedy's disease [DO Concept]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and Bulbar Muscular Atrophy, X-linked 1 [NCIt concept]
DO Cross reference
- Kennedy's disease [DO Concept]
False automatic mappings
- AR wt Allele [NCIt concept]
- Carfilzomib/Dexamethasone Regimen [NCIt concept]
Genes related to phenotype
- Androgen receptor [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Adult onset [HPO term]
- Bulbar palsy [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Decreased fertility [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fasciculations [HPO term]
- Gynecomastia [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Muscle spasm [HPO term]
- Peripheral neuropathy [HPO term]
- Sensory neuropathy [HPO term]
- Slowly progressive [HPO term]
- Testicular atrophy [HPO term]
- Tremor [HPO term]
- Weakness [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Kennedy disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bulbo-Spinal atrophy, X-Linked [MeSH Descriptor]
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
- Kennedy disease [ORDO Disease]
- Kennedy's disease [MedDRA LLT]
- Kennedy's disease [DO Concept]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and Bulbar Muscular Atrophy, X-linked 1 [NCIt concept]
Validated automatic mappings to NTBT
- Bulbospinal muscular atrophy [ICD-11 More detail]
- spinobulbar muscular atrophy [Disease (Nov.)]

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