Spastic paraplegia 9a, autosomal dominant

Preferred Label : Spastic paraplegia 9a, autosomal dominant;

Symbol : SPG9A;

CISMeF acronym : SPG9A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux; Cataracts with motor neuronopathy, short stature, and skeletal abnormalities;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0006);

Laboratory abnormalities : Low plasma levels of citrulline, ornithine, proline, and arginine;

Prefixed ID : #601162;

Details

Origin ID

601162;

UMLS CUI

C5568978;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant spastic paraplegia type 9A [ORDO Disease]
- Spastic paraplegia 9 (autosomal dominant) [ORDO Gene]
- hereditary spastic paraplegia 9A [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 9 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 9A (disorder) [SNOMED CT concept]
- Spastic paraplegia 9, autosomal dominant [MeSH concept]
- spastic paraplegia 9, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 9A [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 18 family, member a1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormal pelvic girdle bone morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Carpal bone hypoplasia [HPO term]
- Cataract [HPO term]
- Corpus callosum atrophy [HPO term]
- Delayed skeletal maturation [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysfunction of lateral corticospinal tracts [HPO term]
- Gait ataxia [HPO term]
- Gait disturbance [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized amyotrophy [HPO term]
- Genetic anticipation [HPO term]
- Hiatus hernia [HPO term]
- Hoffmann sign [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibratory sensation [HPO term]
- Juvenile onset [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Motor polyneuropathy [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Resting tremor [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Specific learning disability [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Vomiting [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 9A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 9A (disorder) [SNOMED CT concept]
- Spastic paraplegia 9, autosomal dominant [MeSH concept]
- spastic paraplegia 9, autosomal dominant [MeSH Supplementary Concept]

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