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Proximal spinal muscular atrophy type 3
1 OMIM reference -
3 associated genes
76 connected diseases
No signs/symptoms info
Disease Type of connection
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 4
Translocation renal cell carcinoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Acute promyelocytic leukemia
Hypotrichosis simplex
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Follicular lymphoma
Intravascular large B-cell lymphoma
Cone rod dystrophy
Idiopathic CD4 lymphocytopenia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Leber congenital amaurosis
Senior-Loken syndrome
Spinocerebellar ataxia type 36
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
46,XY partial gonadal dysgenesis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant spastic paraplegia type 10
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Burkitt lymphoma
Congenital fibrosis of extraocular muscles
Constitutional mismatch repair deficiency syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Desmoplastic small round cell tumor
Distal hereditary motor neuropathy type 2
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial isolated dilated cardiomyopathy
Familial multinodular goiter
Familial porencephaly
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hepatic veno-occlusive disease - immunodeficiency
Hereditary nonpolyposis colon cancer
Left ventricular noncompaction
Lethal osteosclerotic bone dysplasia
Lissencephaly due to TUBA1A mutation
Melanoma of soft part
Mitochondrial trifunctional protein deficiency
Muir-Torre syndrome
Multiple osteochondromas
Non-polyposis Turcot syndrome
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Potocki-Shaffer syndrome
Pseudohypoaldosteronism type 2E
Steinert myotonic dystrophy
Weaver syndrome
Weill-Marchesani syndrome
X-linked Alport syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
Familial hemophagocytic lymphohistiocytosis
Synonym(s):
- Juvenile spinal muscular atrophy
- Kugelberg-Welander disease
- SMA type 3
- SMA-III
- SMA3
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NAIP Q13075600355
SMN1 Q16637600354
SMN2 Q16637601627
No signs/symptoms info available.