WDSTS
MCID: WDM004
MIFTS: 38

Wiedemann-Steiner Syndrome (WDSTS) 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 52 48 24 54 70 27 12
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 48 54
Wiedemann Grosse Dibbern Syndrome 48 68
Wdsts 48 70
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 48
 
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 70
Growth Deficiency and Mental Retardation with Facial Dysmorphism 68
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 70
Wss 70

Characteristics:

Orphanet epidemiological data:

54
wiedemann-steiner syndrome:
Inheritance: X-linked recessive

HPO:

64
wiedemann-steiner syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 605130
Orphanet54 ORPHA319182
ICD10 via Orphanet31 Q87.1
MedGen37 C1854630
MeSH39 D006983

Summaries for Wiedemann-Steiner Syndrome

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NIH Rare Diseases:48 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 high palate, thin upper lip vermilion and epicanthus. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways are Oocyte meiosis and Cell cycle. Affiliated tissues include bone.

OMIM:52 Wiedemann-Steiner syndrome is characterized by hypertrichosis cubiti associated with short stature; consistent facial... (605130) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Wiedemann-Steiner Syndrome

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Graphical network of diseases related to Wiedemann-Steiner Syndrome:



Diseases related to wiedemann-steiner syndrome

Symptoms & Phenotypes for Wiedemann-Steiner Syndrome

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Symptoms by clinical synopsis from OMIM:

605130

Clinical features from OMIM:

605130

Human phenotypes related to Wiedemann-Steiner Syndrome:

 64 (show all 29)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 thin upper lip vermilion64 HP:0000219
3 epicanthus64 HP:0000286
4 hypertelorism64 HP:0000316
5 long philtrum64 HP:0000343
6 low-set ears64 HP:0000369
7 wide nose64 HP:0000445
8 strabismus64 HP:0000486
9 downslanted palpebral fissures64 HP:0000494
10 long eyelashes64 HP:0000527
11 thick eyebrow64 HP:0000574
12 blepharophimosis64 HP:0000581
13 synophrys64 HP:0000664
14 aggressive behavior64 HP:0000718
15 delayed speech and language development64 HP:0000750
16 sacral dimple64 HP:0000960
17 tapered finger64 HP:0001182
18 intellectual disability64 HP:0001249
19 seizures64 HP:0001250
20 muscular hypotonia64 HP:0001252
21 failure to thrive64 HP:0001508
22 short toe64 HP:0001831
23 constipation64 HP:0002019
24 broad-based gait64 HP:0002136
25 delayed skeletal maturation64 HP:0002750
26 clinodactyly of the 5th finger64 HP:0004209
27 short stature64 HP:0004322
28 short middle phalanx of finger64 HP:0005819
29 flat face64 HP:0012368

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 Syndrome27 24 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

36
Bone

Publications for Wiedemann-Steiner Syndrome

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Articles related to Wiedemann-Steiner Syndrome:

(show all 12)
idTitleAuthorsYear
1
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. (27777327)
2017
2
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. (28359930)
2017
3
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. (27759909)
2017
4
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. (27320412)
2016
5
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. (25929198)
2015
6
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. (26544196)
2015
7
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (25810209)
2015
8
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
9
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). (24818805)
2014
10
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. (24886118)
2014
11
De novo mutations in MLL cause Wiedemann-Steiner syndrome. (22795537)
2012
12
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 23)
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)SNVPathogenicrs587783678GRCh38Chr 11, 118468800: 118468800
3KMT2ANM_ 001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter)SNVPathogenicrs587783679GRCh38Chr 11, 118503723: 118503723
4KMT2ANM_ 001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter)SNVPathogenicrs587783680GRCh37Chr 11, 118374702: 118374702
5SMC1ANM_ 006306.3(SMC1A): c.2974-2A> GSNVPathogenicrs727503774GRCh38Chr X, 53383255: 53383255
6SMC3NM_ 005445.3(SMC3): c.2536-6_ 2540delTTACAGGAACTdeletionPathogenicrs727503775GRCh37Chr 10, 112360774: 112360784
7SMC1ANM_ 006306.3(SMC1A): c.121C> T (p.Leu41Phe)SNVPathogenicrs727503776GRCh38Chr X, 53415158: 53415158
8KMT2ANM_ 001197104.1(KMT2A): c.5494C> A (p.Pro1832Thr)SNVLikely pathogenicrs797045051GRCh37Chr 11, 118366545: 118366545
9KMT2ANM_ 001197104.1(KMT2A): c.11084C> G (p.Ser3695Ter)SNVPathogenicrs782477344GRCh38Chr 11, 118511963: 118511963
10KMT2ANM_ 001197104.1(KMT2A): c.6811delA (p.Arg2271Glyfs)deletionPathogenicrs797045656GRCh37Chr 11, 118373418: 118373418
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> ASNVLikely pathogenicrs863224889GRCh38Chr 11, 118482496: 118482496
14KMT2ANM_ 001197104.1(KMT2A): c.4342T> C (p.Cys1448Arg)SNVLikely 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)SNVPathogenicrs387907275GRCh37Chr 11, 118373751: 118373751
19KMT2ANM_ 001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs)duplicationPathogenicrs398122881GRCh38Chr 11, 118490152: 118490152
20KMT2ANM_ 005933.3(KMT2A): c.2318dupC (p.Ser774Valfs)duplicationPathogenicrs1057518649GRCh37Chr 11, 118344192: 118344192
21KMT2ANM_ 001197104.1(KMT2A): c.6080G> A (p.Gly2027Glu)SNVLikely pathogenicrs1057519403GRCh37Chr 11, 118370550: 118370550
22KMT2ANM_ 001197104.1(KMT2A): c.4696+1G> ASNVPathogenicrs1057519407GRCh37Chr 11, 118360965: 118360965
23KMT2ANM_ 001197104.1(KMT2A): c.6002_ 6005delTTGT (p.Phe2001Trpfs)deletionPathogenicrs1057519408GRCh37Chr 11, 118370058: 118370061

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
9.0SMC1A, SMC3
2
Show member pathways
9.0SMC1A, SMC3
39.0SMC1A, SMC3
49.0SMC1A, SMC3
5
Show member pathways
9.0SMC1A, SMC3
6
Show member pathways
9.0SMC1A, SMC3
78.5KMT2A, 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
1chromosome, centromeric regionGO:00007759.3SMC1A, SMC3
2cohesin complexGO:00082789.2SMC1A, SMC3
3meiotic cohesin complexGO:00308939.0SMC1A, SMC3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1chromosome organizationGO:00512769.6SMC1A, SMC3
2meiotic cell cycleGO:00513219.6SMC1A, SMC3
3meiotic nuclear divisionGO:00071269.6SMC1A, SMC3
4mitotic sister chromatid cohesionGO:00070649.6SMC1A, SMC3
5negative regulation of DNA endoreduplicationGO:00328769.6SMC1A, SMC3
6sister chromatid cohesionGO:00070629.5SMC1A, SMC3
7stem cell population maintenanceGO:00198279.0SMC1A, SMC3

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

idNameGO IDScoreTop Affiliating Genes
1mediator complex bindingGO:00360339.0SMC1A, SMC3
2chromatin bindingGO:00036828.6KMT2A, SMC1A, SMC3

Sources for Wiedemann-Steiner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet