Details of Disease | DrugMAP

General Information of Disease (ID: DISRFD82)

Disease Name	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Synonyms	macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism; SKS; SMITH-Kingsmore syndrome; macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism; Smith-Kingsmore syndrome; Smith-Kingsmore Syndrome; MINDS syndrome
Definition	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and caf-au-lait spots, among others.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISWECW7: Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISRFD82: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Disease Identifiers	MONDO ID MONDO_0014716 UMLS CUI C4225259 OMIM ID 616638 MedGen ID 899689 Orphanet ID 457485 SNOMED CT ID 1187304005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTOR	TTCJG29	Strong	Genetic Variation	[1]
MTOR	TTCJG29	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTOR	OTHH8KU7	Definitive	Autosomal dominant	[2]
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References

1	A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3.
2	A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genet A. 2015 Jul;167(7):1659-67. doi: 10.1002/ajmg.a.37070. Epub 2015 Apr 6.