DISEASE: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Entry
H02798 Disease
Name
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Description
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is a rare early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency. It has been reported that mutations in GGPS1 cause this syndrome. GGPS1 encodes an enzyme in the mevalonate pathway that is a central metabolic shuttle for the synthesis of specialized lipids.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2E Syndromes with structural anomalies due to inborn errors of metabolism
H02798 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Bohm J, Jaiswal JK, Stojkovic T, Bonnemann CG
Title
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH
Title
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
