Spastic tetraplegia and axial hypotonia, progressive

Preferred Label : Spastic tetraplegia and axial hypotonia, progressive;

Symbol : STAHP;

CISMeF acronym : STAHP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sod1 deficiency, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the superoxide dismutase-1 gene (SOD1, 147450.0036);

Laboratory abnormalities : Increased serum lactate (1 patient);

Prefixed ID : #618598;

Details

Origin ID

618598;

UMLS CUI

C5231422;

Genes related to phenotype
- Superoxide dismutase 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Absent speech [HPO term]
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Exaggerated startle response [HPO term]
- Fasciculations [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Increased serum lactate [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Lower limb spasticity [HPO term]
- Myokymia [HPO term]
- Overlapping toe [HPO term]
- Spastic tetraparesis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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