SPG33
MCID: SPS113
MIFTS: 35
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Spastic Paraplegia 33, Autosomal Dominant (SPG33)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 33, Autosomal Dominant:
Characteristics:HPO:32Classifications:
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 |
UniProtKB/Swiss-Prot
:
75
Spastic paraplegia 33, 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.
MalaCards based summary : Spastic Paraplegia 33, Autosomal Dominant, also known as spg33, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 33, Autosomal Dominant is ZFYVE27 (Zinc Finger FYVE-Type Containing 27). Affiliated tissues include skin, bone and eye, and related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24.
Description from OMIM:
610244
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610244Human phenotypes related to Spastic Paraplegia 33, Autosomal Dominant:32 (show all 7)
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MalaCards organs/tissues related to Spastic Paraplegia 33, Autosomal Dominant:41
Skin,
Bone,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 33, Autosomal Dominant:75
ClinVar genetic disease variations for Spastic Paraplegia 33, Autosomal Dominant:6
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Search
GEO
for disease gene expression data for Spastic Paraplegia 33, Autosomal Dominant.
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Cellular components related to Spastic Paraplegia 33, Autosomal Dominant according to GeneCards Suite gene sharing:
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