|
SPG74
MCID: SPS156
MIFTS: 28
|
Spastic Paraplegia 74, Autosomal Recessive (SPG74)
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 74, Autosomal Recessive:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in first decade one consanguineous arab family has been reported (last curated july 2015) HPO:33
spastic paraplegia 74, autosomal recessive:
Onset and clinical course slow progression Inheritance autosomal recessive inheritance 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 |
|
UniProtKB/Swiss-Prot
:
76
Spastic paraplegia 74, autosomal recessive: 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. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood.
MalaCards based summary : Spastic Paraplegia 74, Autosomal Recessive, also known as spg74, is related to multiple mitochondrial dysfunctions syndrome and multiple mitochondrial dysfunctions syndrome 3. An important gene associated with Spastic Paraplegia 74, Autosomal Recessive is IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57). Affiliated tissues include eye, and related phenotypes are progressive spastic paraplegia and peripheral axonal neuropathy Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the IBA57 gene on chromosome 1q42. OMIM : 58 Spastic paraplegia-74 is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (616451) |
Human phenotypes related to Spastic Paraplegia 74, Autosomal Recessive:60 33 (show all 23)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616451 |
|
|
MalaCards organs/tissues related to Spastic Paraplegia 74, Autosomal Recessive:42
Eye
|
Genes related to Spastic Paraplegia 74, Autosomal Recessive (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Spastic Paraplegia 74, Autosomal Recessive:6 (show all 24)
|
|
Search
GEO
for disease gene expression data for Spastic Paraplegia 74, Autosomal Recessive.
|
|
|
|