SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Cerebral atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.140 Biomarker disease BEFREE Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 29050398 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.140 GeneticVariation disease BEFREE Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.140 GeneticVariation disease BEFREE Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. 22429196 2012
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.140 GeneticVariation disease BEFREE Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy. 22258530 2012
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.140 Biomarker disease HPO