Spastic paraplegia 16, X-linked

Preferred Label : Spastic paraplegia 16, X-linked;

Symbol : SPG16;

CISMeF acronym : SPG16;

Type : Phenotype or locus, molecular basis unknown;

Description : Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997). A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997). For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.;

Inheritance : X-linked recessive;

Prefixed ID : %300266;

Details

Origin ID

300266;

UMLS CUI

C1846046;

Currated CISMeF NLP mapping
- Spastic paraplegia 16, X-linked [MeSH concept]
- X-linked spastic paraplegia type 16 [ICD-11 More detail]
- X-linked spastic paraplegia type 16 [ORDO Disease]
- X-linked spastic paraplegia type 16 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 16 [DO Concept]
- spastic paraplegia 16, X-linked [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 16 [DO Concept]
HPO term(s)
- Babinski sign [HPO term]
- Expressive aphasia [HPO term]
- Facial hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Low frustration tolerance [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Mood swings [HPO term]
- Quadriplegia [HPO term]
- Restlessness [HPO term]
- Short distal phalanx of finger [HPO term]
- Short, thick distal phalanges [HPO term]
- Shuffling gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Strabismus [HPO term]
- Tetraplegia [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Visual impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked spastic paraplegia type 16 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia 16, X-linked [MeSH concept]
- X-linked spastic paraplegia type 16 [ORDO Disease]
- X-linked spastic paraplegia type 16 (disorder) [SNOMED CT concept]
- spastic paraplegia 16, X-linked [MeSH Supplementary Concept]

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