DISEASE: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Entry
H02619 Disease
Name
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Description
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents of the CTBP1 corepressor complex mediate coordinated histone modifications.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bonnemann CG, Chung WK, Chinnadurai G
Title
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
