|
SPG9A
MCID: SPS158
MIFTS: 30
|
Spastic Paraplegia 9a, Autosomal Dominant (SPG9A)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Spastic Paraplegia 9a, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:60
autosomal dominant spastic paraplegia type 9a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Infancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive variable age of onset (first to third decades) weakness during pregnancy in some affected females has been reported HPO:33
spastic paraplegia 9a, autosomal dominant:
Inheritance genetic anticipation autosomal dominant inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases
ICD10:
34
35
|
|
UniProtKB/Swiss-Prot
:
76
Spastic paraplegia 9A, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency.
MalaCards based summary : Spastic Paraplegia 9a, Autosomal Dominant, is also known as spg9a, and has symptoms including upper motor neuron signs An important gene associated with Spastic Paraplegia 9a, Autosomal Dominant is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include bone, cerebellum and eye, and related phenotypes are spastic gait and hyperreflexia in upper limbs Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. OMIM : 58 Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (601162) |
Human phenotypes related to Spastic Paraplegia 9a, Autosomal Dominant:60 33 (show top 50) (show all 58)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:601162UMLS symptoms related to Spastic Paraplegia 9a, Autosomal Dominant:upper motor neuron signs |
|
|
MalaCards organs/tissues related to Spastic Paraplegia 9a, Autosomal Dominant:42
Bone,
Cerebellum,
Eye,
Spinal Cord
|
Genes related to Spastic Paraplegia 9a, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 9a, Autosomal Dominant:76
ClinVar genetic disease variations for Spastic Paraplegia 9a, Autosomal Dominant:6 (show top 50) (show all 66)
|
|
Search
GEO
for disease gene expression data for Spastic Paraplegia 9a, Autosomal Dominant.
|
|
|
|