WDSTS
MCID: WDM004
MIFTS: 45
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Wiedemann-Steiner Syndrome (WDSTS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Wiedemann-Steiner Syndrome:
Characteristics:Orphanet epidemiological data:58
wiedemann-steiner syndrome
Inheritance: X-linked recessive; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation hairy elbows become apparent in infancy and regress during adolescence facial appearance becomes more apparent with age HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Wiedemann-Steiner Syndrome:58 31 (show top 50) (show all 73)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:605130 |
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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:40
Bone
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Articles related to Wiedemann-Steiner Syndrome:(show all 41)
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ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:6 (show top 50) (show all 74)
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Search
GEO
for disease gene expression data for Wiedemann-Steiner Syndrome.
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Pathways related to Wiedemann-Steiner Syndrome according to KEGG:36
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Cellular components related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:
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