Details of Disease | DrugMAP

General Information of Disease (ID: DIS67KX5)

Disease Name	Wiedemann-Steiner syndrome
Synonyms	A syndrome of abnormal facies, short stature, and psychomotor retardation; WDSTS; Wiedemann Grosse Dibbern syndrome; hairy elbows, short stature, Facial Dysmorphism, and developmental delay; hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome; Wiedemann-Steiner syndrome
Definition	Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS67KX5: Wiedemann-Steiner syndrome
Disease Identifiers	MONDO ID MONDO_0011518 MESH ID C565358 UMLS CUI C1854630 OMIM ID 605130 MedGen ID 340266 Orphanet ID 319182 SNOMED CT ID 763618001

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
KMT2A	TT1GNDM	Strong	Genetic Variation	[1]
KMT2A	TT1GNDM	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TASP1	OTOX7946	Limited	Biomarker	[3]
SMC1A	OT9ZMRK9	moderate	GermlineCausalMutation	[4]
SMC3	OTWGFRHD	moderate	Genetic Variation	[4]
KMT2A	OT9GLJI6	Definitive	Autosomal dominant	[2]
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References

1	A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.BMC Med Genet. 2019 Mar 6;20(1):38. doi: 10.1186/s12881-019-0776-0.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.Clin Genet. 2018 Jul;94(1):170-173. doi: 10.1111/cge.13258. Epub 2018 May 10.
4	Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9.