DISEASE: Short stature, microcephaly, and endocrine dysfunction
Entry
H02578 Disease
Name
Short stature, microcephaly, and endocrine dysfunction
Description
Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair.
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
H02578 Short stature, microcephaly, and endocrine dysfunction
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H02578 Short stature, microcephaly, and endocrine dysfunction
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A
Title
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
Title
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
