Details of Disease

General Information of Disease (ID: DIS1YKCO)

Disease Name Simpson-Golabi-Behmel syndrome type 2
Synonyms
Simpson-Golabi-Behmel syndrome, type 2; Sgbs2; Simpson-Golabi-Behmel syndrome caused by mutation in OFD1; Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive; SGBS2; lethal variant of Simpson-Golabi-Behmel syndrome; OFD1 Simpson-Golabi-Behmel syndrome
Definition
Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.
Disease Hierarchy
DIS9H9TY: Simpson-Golabi-Behmel syndrome
DISYKSRF: Genetic disease
DIS1YKCO: Simpson-Golabi-Behmel syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0010265
UMLS CUI
C1846175
OMIM ID
300209
MedGen ID
337527
Orphanet ID
79022

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PIGA OT51UWUR Strong Genetic Variation [1]
OFD1 OTAZW5TK Definitive X-linked recessive [2]
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References

1 A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.
2 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17.