ENOPH1, enolase-phosphatase 1, 58478

N. diseases: 14; N. variants: 0
Disease: X-linked hydrocephalus syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Using this method we have identified 6 novel mutations in the L1CAM gene in 5 patients with X-linked hydrocephalus and 2 patients with MASA. 9521424 1998
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for X-linked hydrocephalus and the related MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome. 8636066 1996