MCID: WDM004
MIFTS: 40

Wiedemann-Steiner Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Wiedemann-Steiner Syndrome

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Aliases & Descriptions for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 50 46 23 52 68 25 12
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 46 52
Wiedemann Grosse Dibbern Syndrome 46 66
Wdsts 46 68
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 46
 
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 68
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 68
Growth Deficiency and Mental Retardation with Facial Dysmorphism 66
Wss 68

Characteristics:

Orphanet epidemiological data:

52
wiedemann-steiner syndrome:
Inheritance: X-linked recessive

Classifications:



External Ids:

OMIM50 605130
Orphanet52 ORPHA319182
ICD10 via Orphanet29 Q87.1
MedGen35 C1854630
MeSH37 D006983

Summaries for Wiedemann-Steiner Syndrome

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NIH Rare Diseases:46 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. last updated: 4/17/2015

MalaCards based summary: Wiedemann-Steiner Syndrome, also known as hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome, is related to woodhouse-sakati syndrome and weaver syndrome, and has symptoms including long eyelashes, sacral dimple and tapered finger. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways are Meiosis and Oocyte meiosis. Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 Wiedemann-Steiner syndrome is characterized by hypertrichosis cubiti associated with short stature; consistent facial... (605130) more...

Related Diseases for Wiedemann-Steiner Syndrome

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Diseases related to Wiedemann-Steiner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1woodhouse-sakati syndrome11.4
2weaver syndrome11.1
3wrinkly skin syndrome11.0
4weaver syndrome 110.9
5hairy elbows10.2
6gonadal dysgenesis10.2
7atherosclerosis10.0
8intracranial aneurysm10.0
9sakati syndrome10.0
10aneurysm10.0
11lyme disease9.7SMC1A, SMC3
12spastic paraplegia 37, autosomal dominant9.6SMC1A, SMC3
13hyperammonemia due to carbonic anhydrase va deficiency9.4SMC1A, SMC3
14microphthalmia, isolated 58.4HRX, KMT2A, SMC1A, SMC3

Graphical network of diseases related to Wiedemann-Steiner Syndrome:



Diseases related to wiedemann-steiner syndrome

Symptoms for Wiedemann-Steiner Syndrome

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Symptoms by clinical synopsis from OMIM:

605130

Clinical features from OMIM:

605130

HPO human phenotypes related to Wiedemann-Steiner Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 long eyelashes rare (5%) HP:0000527
2 sacral dimple rare (5%) HP:0000960
3 tapered finger rare (5%) HP:0001182
4 seizures rare (5%) HP:0001250
5 muscular hypotonia rare (5%) HP:0001252
6 constipation rare (5%) HP:0002019
7 delayed skeletal maturation rare (5%) HP:0002750
8 high palate HP:0000218
9 thin upper lip vermilion HP:0000219
10 epicanthus HP:0000286
11 hypertelorism HP:0000316
12 long philtrum HP:0000343
13 low-set ears HP:0000369
14 wide nose HP:0000445
15 strabismus HP:0000486
16 downslanted palpebral fissures HP:0000494
17 thick eyebrow HP:0000574
18 blepharophimosis HP:0000581
19 synophrys HP:0000664
20 aggressive behavior HP:0000718
21 delayed speech and language development HP:0000750
22 intellectual disability HP:0001249
23 muscular hypotonia HP:0001252
24 failure to thrive HP:0001508
25 short toe HP:0001831
26 broad-based gait HP:0002136
27 clinodactyly of the 5th finger HP:0004209
28 short stature HP:0004322
29 short middle phalanx of finger HP:0005819
30 flat face HP:0012368

UMLS symptoms related to Wiedemann-Steiner Syndrome:


observation of narrowing of palpebral fissure

Drugs & Therapeutics for Wiedemann-Steiner Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wiedemann-Steiner Syndrome

Genetic Tests for Wiedemann-Steiner Syndrome

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Genetic tests related to Wiedemann-Steiner Syndrome:

id Genetic test Affiliating Genes
1 Wiedemann-Steiner Syndrome25 23 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

34
Bone

Animal Models for Wiedemann-Steiner Syndrome or affiliated genes

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Publications for Wiedemann-Steiner Syndrome

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Articles related to Wiedemann-Steiner Syndrome:

idTitleAuthorsYear
1
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. (27320412)
2016
2
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (25810209)
2015
3
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. (26544196)
2015
4
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. (25929198)
2015
5
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. (26690532)
2015
6
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. (24886118)
2014
7
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). (24818805)
2014
8
De novo mutations in MLL cause Wiedemann-Steiner syndrome. (22795537)
2012
9
Wiedemann-Steiner syndrome: three further cases. (20803650)
2010

Variations for Wiedemann-Steiner Syndrome

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Clinvar genetic disease variations for Wiedemann-Steiner Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2ANM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs)deletionPathogenicrs587783676GRCh38Chr 11, 118473832: 118473833
2KMT2ANM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter)single nucleotide variantPathogenicrs587783678GRCh38Chr 11, 118468800: 118468800
3KMT2ANM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter)single nucleotide variantPathogenicrs587783679GRCh38Chr 11, 118503723: 118503723
4KMT2ANM_001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter)single nucleotide variantPathogenicrs587783680GRCh37Chr 11, 118374702: 118374702
5SMC1ANM_006306.3(SMC1A): c.2974-2A> Gsingle nucleotide variantPathogenicrs727503774GRCh38Chr X, 53383255: 53383255
6SMC3NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACTdeletionPathogenicrs727503775GRCh37Chr 10, 112360774: 112360784
7SMC1ANM_006306.3(SMC1A): c.121C> T (p.Leu41Phe)single nucleotide variantPathogenicrs727503776GRCh38Chr X, 53415158: 53415158
8KMT2ANM_001197104.1(KMT2A): c.5494C> A (p.Pro1832Thr)single nucleotide variantLikely pathogenicrs797045051GRCh37Chr 11, 118366545: 118366545
9NM_001197104.1(KMT2A): c.11084C> G (p.Ser3695Ter)single nucleotide variantPathogenicrs782477344GRCh38Chr 11, 118511963: 118511963
10KMT2ANM_001197104.1(KMT2A): c.6811delA (p.Arg2271Glyfs)deletionPathogenicrs797045656GRCh38Chr 11, 118502703: 118502703
11KMT2ANM_001197104.1(KMT2A): c.3651dupG (p.Lys1218Glufs)duplicationPathogenicrs863224887GRCh38Chr 11, 118481731: 118481731
12KMT2ANM_001197104.1(KMT2A): c.10334dupC (p.Ser3446Phefs)duplicationPathogenicrs863224888GRCh38Chr 11, 118506226: 118506226
13KMT2ANM_001197104.1(KMT2A): c.4086+1G> Asingle nucleotide variantLikely pathogenicrs863224889GRCh38Chr 11, 118482496: 118482496
14KMT2ANM_001197104.1(KMT2A): c.4342T> C (p.Cys1448Arg)single nucleotide variantLikely pathogenicrs863224895GRCh38Chr 11, 118488623: 118488623
15KMT2ANM_001197104.1(KMT2A): c.8806_8809delGTCT (p.Val2936Terfs)deletionPathogenicrs398122878GRCh37Chr 11, 118375413: 118375416
16KMT2ANM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs)deletionPathogenicrs398122879GRCh37Chr 11, 118374874: 118374874
17KMT2ANM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs)deletionPathogenicrs398122880GRCh37Chr 11, 118373520: 118373520
18KMT2ANM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter)single nucleotide variantPathogenicrs387907275GRCh37Chr 11, 118373751: 118373751
19KMT2ANM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs)duplicationPathogenicrs398122881GRCh37Chr 11, 118360867: 118360867

Expression for genes affiliated with Wiedemann-Steiner Syndrome

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

Pathways for genes affiliated with Wiedemann-Steiner Syndrome

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Pathways related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SMC1A, SMC3
2
Show member pathways
9.3SMC1A, SMC3
39.3SMC1A, SMC3
49.3SMC1A, SMC3
59.3SMC1A, SMC3
6
Show member pathways
9.3SMC1A, SMC3
7
Show member pathways
9.3SMC1A, SMC3
88.8KMT2A, SMC1A, SMC3

GO Terms for genes affiliated with Wiedemann-Steiner Syndrome

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Cellular components related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cohesin core heterodimerGO:00082809.9SMC1A, SMC3
2meiotic cohesin complexGO:00308939.8SMC1A, SMC3
3chromosome, centromeric regionGO:00007759.3SMC1A, SMC3
4chromosomeGO:00056949.2SMC1A, SMC3

Biological processes related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of DNA endoreduplicationGO:003287610.0SMC1A, SMC3
2mitotic sister chromatid cohesionGO:00070649.8SMC1A, SMC3
3protein sumoylationGO:00169259.7SMC1A, SMC3
4sister chromatid cohesionGO:00070629.5SMC1A, SMC3
5mitotic spindle organizationGO:00070529.5SMC1A, SMC3
6DNA repairGO:00062819.4SMC1A, SMC3
7stem cell population maintenanceGO:00198279.3SMC1A, SMC3
8meiotic nuclear divisionGO:00071269.2SMC1A, SMC3

Molecular functions related to Wiedemann-Steiner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mediator complex bindingGO:00360339.9SMC1A, SMC3
2chromatin bindingGO:00036828.8KMT2A, SMC1A, SMC3

Sources for Wiedemann-Steiner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet