Spastic paraplegia 7, autosomal recessive

Preferred Label : Spastic paraplegia 7, autosomal recessive;

Symbol : SPG7;

CISMeF acronym : SPG7;

Type : Phenotype, molecular basis known;

Description : Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the paraplegin gene (SPG7, 602783.0001);

Prefixed ID : #607259;

Détails

Origin ID

607259;

UMLS CUI

C1846564;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 7 [ICD-11 More detail]
- Spastic Paraplegia 7 [NCIt concept]
- Spastic paraplegia type 7 [ORDO Disease]
- Spastic paraplegia type 7 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 7 [DO Concept]
- spastic paraplegia 7, autosomal recessive [MeSH concept]
- spastic paraplegia 7, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia type 7 [MeSH Supplementary Concept]
- spastic paraplegia type 7 [MeSH concept]
DO Cross reference
- hereditary spastic paraplegia 7 [DO Concept]
Genes related to phenotype
- Spg7 matrix aaa peptidase subunit, paraplegin [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cognitive defects [HPO term]
- Cognitive impairment [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Lower limb hypertonia [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Memory impairment [HPO term]
- Muscle stiffness [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Postural instability [HPO term]
- Scoliosis [HPO term]
- Slurred speech [HPO term]
- Spastic ataxia [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Upper limb hypertonia [HPO term]
- Upper limb muscle weakness [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spastic paraplegia type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic Paraplegia 7 [NCIt concept]
- Spastic paraplegia type 7 [ORDO Disease]
- spastic paraplegia 7, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 7, autosomal recessive [MeSH concept]

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