Wiedemann-Steiner Syndrome (WDSTS)

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OMIM 56 605130 KEGG 36 H01879 MeSH 43 D006983 ICD10 via Orphanet 33 Q87.1 UMLS via Orphanet 72 C1854630

Orphanet 58 ORPHA319182 MedGen 41 C1854630 SNOMED-CT via HPO 68 11731003 11934000 123982003 123983008 128602000 128613002 14760008 15253005 162294008 16331000 194021007 199612005 2109003 22006008 22033007 22066006 224958001 225595004 228156007 229721007 235595009 237836003 246545002 246800008 246802000 246803005 247578003 247762003 248004009 249310005 249321001 249729002 249768009 253207002 263681008 271611007 27272007 288939007 29164008 311897005 313307000 36440009 391987005 398151007 398152000 40739000 422775003 430099007 432788009 44548000 48694002 5507002 61372001 62415009 698065002 72239002 78164000 84328007 84757009 91138005 91175000 95515009 more UMLS 71 C1854630 C2931294

KEGG : ³⁶ Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. Sharing clinical features with Cornelia de Lange syndrome, WDSTS is another heterogeneous disease. WDSTS is caused by heterozygous mutations in KMT2A, also known as MLL. KMT2A encodes a histone methyltransferase that plays an important role in early development and hematopoiesis. Recently, an autosomal-recessive disorder with Cornelia de Lange syndrome-like features has been reported and termed Alazami-Yuan syndrome. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component.

MalaCards based summary : Wiedemann-Steiner Syndrome, also known as wdsts, is related to alacrima, achalasia, and mental retardation syndrome and familial isolated trichomegaly. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are Basal transcription factors and Cell cycle_Spindle assembly and chromosome separation. Affiliated tissues include bone, and related phenotypes are delayed speech and language development and delayed skeletal maturation

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ Wiedemann-Steiner syndrome is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, wide nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back (summary by Jones et al., 2012 and Miyake et al., 2016). (605130)

UniProtKB/Swiss-Prot : ⁷³ Wiedemann-Steiner syndrome: A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.

Wikipedia : ⁷⁴ Wiedemann-Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial... more...

Clinical features from OMIM:

605130

Search Clinical Trials , NIH Clinical Center for Wiedemann-Steiner Syndrome

Search GEO for disease gene expression data for Wiedemann-Steiner Syndrome.