Spastic paraplegia 76, autosomal recessive

Preferred Label : Spastic paraplegia 76, autosomal recessive;

Symbol : SPG76;

CISMeF acronym : SPG76;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calpain 1 gene (CAPN1, 114220.0001);

Prefixed ID : #616907;

Details

Origin ID

616907;

UMLS CUI

C5567483;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 76 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 76 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 76 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 76 [DO Concept]
Genes related to phenotype
- Calpain 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Hyperreflexia in upper limbs [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Nystagmus [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Pes valgus [HPO term]
- Scoliosis [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic paraplegia [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 76 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 76 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 76 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 76 [DO Concept]

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