Spastic paraplegia 3, autosomal dominant

Preferred Label : Spastic paraplegia 3, autosomal dominant;

Symbol : SPG3A;

CISMeF acronym : FSP1; SPG3A; SPG3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FSP1; Strumpell disease; SPG3; Familial spastic paraplegia, autosomal dominant, 1;

Description : The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see 270800), and X-linked (see 303350)) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. - Genetic Heterogeneity of Autosomal Dominant Spastic Paraplegia In addition to SPG3A, which is caused by mutation in the ALT1 gene on chromosome 14q22, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (182601), caused by mutation in the SPAST gene (604277) on 2p22-p21; SPG6 (600363), caused by mutation in the NIPA1 gene (608145) on 15q11.1; SPG8 (603563), caused by mutation in the KIAA0196 gene (610657) on 8q24; SPG10 (604187), caused by mutation in the KIF5A gene (602821) on 12q13; SPG12 (604805), caused by mutation in the RTN2 gene (603183) on 19q13; SPG13 (605280), caused by mutation in the SSPD1 gene (118190) on 2q33.1; SPG31 (610250), caused by mutation in the REEP1 gene (609139) on 2p11.2; and SPG33 (610244), caused by mutation in the ZFYVE27 gene (610243) on 10q24.2. Autosomal dominant spastic paraplegia has been mapped to chromosomes 10q (SPG9; 601162), 9q (SPG19; 607152), 1p31-p21 (SPG29; 609727), 12q23-q24 (SPG36; 613096), 8p21.1-q13.3 (SPG37; 611945), 4p16-p15 (SPG38; 612335), and 11p14.1-p11.2 (SPG41; 613364).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the atlastin gene (SPG3A, 606439.0001);

Prefixed ID : #182600;

Details

Origin ID

182600;

UMLS CUI

C2931355;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant spastic paraplegia type 6 (disorder) [SNOMED CT concept]
- Hereditary spastic paraplegia [MedDRA Preferred Term]
- Hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- S100A4 wt Allele [NCIt concept]
- SPG3A gene [LOINC component]
- Spastic Paraplegia 3A [NCIt concept]
- Strumpell's disease [MedDRA LLT]
- atlastin GTPase 1 [ORDO Gene]
- hereditary spastic paraplegia 3A [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 3 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 3 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 3 (disorder) [SNOMED CT concept]
- Spastic paraplegia 3, autosomal dominant [MeSH concept]
- spastic paraplegia 3, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 3A [DO Concept]
Genes related to phenotype
- Atlastin gtpase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Heterogeneous [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Incomplete penetrance [HPO term]
- Insidious onset [HPO term]
- Intellectual disability, mild [HPO term]
- Lower limb atrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Paraplegia [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 3 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 3 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 3 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 3A [NCIt concept]
- Spastic paraplegia 3, autosomal dominant [MeSH concept]
- Strumpell's disease [MedDRA LLT]
- spastic paraplegia 3, autosomal dominant [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- hereditary spastic paraplegia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients