Spastic paraplegia 44, autosomal recessive

Preferred Label : Spastic paraplegia 44, autosomal recessive;

Symbol : SPG44;

CISMeF acronym : SPG44;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gap junction protein, gamma-2 gene (GJC2, 608803.0008);

Prefixed ID : #613206;

Détails

Origin ID

613206;

UMLS CUI

C2750784;

Automatic exact mappings (from CISMeF team)
- gap junction protein gamma 2 [ORDO Gene]
- gap junction protein gamma 2 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 44 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 44 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 44 [DO Concept]
- spastic paraplegia 44, autosomal recessive [MeSH concept]
- spastic paraplegia 44, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 44 [DO Concept]
Genes related to phenotype
- Gap junction protein, gamma-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cognitive impairment [HPO term]
- Constipation [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intention tremor [HPO term]
- Leukoencephalopathy [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slow saccadic eye movements [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Upper limb spasticity [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 44 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 44 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 44 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 44 [DO Concept]
- spastic paraplegia 44, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 44, autosomal recessive [MeSH concept]

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