MCID: WDM004
MIFTS: 39

Wiedemann-Steiner Syndrome malady

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

Aliases & Classifications for Wiedemann-Steiner Syndrome

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Aliases & Descriptions for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 51 47 24 53 69 26 12
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 47 53
Wiedemann Grosse Dibbern Syndrome 47 67
Wdsts 47 69
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 47
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 69
 
Growth Deficiency and Mental Retardation with Facial Dysmorphism 67
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 69
Wrinkly Skin Syndrome 67
Weaver Syndrome 67
Wss 69

Characteristics:

Orphanet epidemiological data:

53
wiedemann-steiner syndrome:
Inheritance: X-linked recessive

Classifications:



External Ids:

OMIM51 605130
Orphanet53 ORPHA319182
ICD10 via Orphanet30 Q87.1
MedGen36 C1854630
MeSH38 D006983

Summaries for Wiedemann-Steiner Syndrome

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NIH Rare Diseases:47 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 skin and bone.

UniProtKB/Swiss-Prot:69 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:51 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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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

Human phenotypes related to Wiedemann-Steiner Syndrome:

 63 (show all 29)
id Description HPO Frequency HPO Source Accession
1 long eyelashes63 rare (5%) HP:0000527
2 sacral dimple63 rare (5%) HP:0000960
3 tapered finger63 rare (5%) HP:0001182
4 seizures63 rare (5%) HP:0001250
5 muscular hypotonia63 rare (5%) HP:0001252
6 constipation63 rare (5%) HP:0002019
7 delayed skeletal maturation63 rare (5%) HP:0002750
8 high palate63 HP:0000218
9 thin upper lip vermilion63 HP:0000219
10 epicanthus63 HP:0000286
11 hypertelorism63 HP:0000316
12 long philtrum63 HP:0000343
13 low-set ears63 HP:0000369
14 wide nose63 HP:0000445
15 strabismus63 HP:0000486
16 downslanted palpebral fissures63 HP:0000494
17 thick eyebrow63 HP:0000574
18 blepharophimosis63 HP:0000581
19 synophrys63 HP:0000664
20 aggressive behavior63 HP:0000718
21 delayed speech and language development63 HP:0000750
22 intellectual disability63 HP:0001249
23 failure to thrive63 HP:0001508
24 short toe63 HP:0001831
25 broad-based gait63 HP:0002136
26 clinodactyly of the 5th finger63 HP:0004209
27 short stature63 HP:0004322
28 short middle phalanx of finger63 HP:0005819
29 flat face63 HP:0012368

UMLS symptoms related to Wiedemann-Steiner Syndrome:


muscle spasticity, 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 Syndrome26 24 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

35
Skin, 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:

(show all 11)
idTitleAuthorsYear
1
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. (27759909)
2017
2
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. (27777327)
2017
3
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. (27320412)
2016
4
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (25810209)
2015
5
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. (26544196)
2015
6
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. (25929198)
2015
7
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
8
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. (24886118)
2014
9
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). (24818805)
2014
10
De novo mutations in MLL cause Wiedemann-Steiner syndrome. (22795537)
2012
11
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 21)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2ANM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs)deletionPathogenicrs587783676GRCh37Chr 11, 118344547: 118344548
2KMT2ANM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter)SNVPathogenicrs587783678GRCh38Chr 11, 118468800: 118468800
3KMT2ANM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter)SNVPathogenicrs587783679GRCh37Chr 11, 118374438: 118374438
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)deletionPathogenicrs797045656GRCh38Chr 11, 118502703: 118502703
11KMT2ANM_001197104.1(KMT2A): c.3651dupG (p.Lys1218Glufs)duplicationPathogenicrs863224887GRCh37Chr 11, 118352446: 118352446
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 pathogenicrs863224895GRCh37Chr 11, 118359338: 118359338
15ATP6V0A2NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)duplicationPathogenicrs886043377GRCh37Chr 12, 124197190: 124197190
16KMT2ANM_001197104.1(KMT2A): c.8806_8809delGTCT (p.Val2936Terfs)deletionPathogenicrs398122878GRCh37Chr 11, 118375413: 118375416
17KMT2ANM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs)deletionPathogenicrs398122879GRCh37Chr 11, 118374874: 118374874
18KMT2ANM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs)deletionPathogenicrs398122880GRCh37Chr 11, 118373520: 118373520
19KMT2ANM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter)SNVPathogenicrs387907275GRCh37Chr 11, 118373751: 118373751
20KMT2ANM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs)duplicationPathogenicrs398122881GRCh37Chr 11, 118360867: 118360867
21ATP6V0A2ATP6V0A2, 10132G-ASNVPathogenicChr na, -1: -1

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
3
Show member pathways
9.0SMC1A, SMC3
49.0SMC1A, SMC3
59.0SMC1A, SMC3
6
Show member pathways
9.0SMC1A, SMC3
7
Show member pathways
9.0SMC1A, SMC3
88.5KMT2A, 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
1meiotic cohesin complexGO:00308939.6SMC1A, SMC3
2chromosome, centromeric regionGO:00007759.0SMC1A, SMC3
3chromosomeGO:00056948.7SMC1A, 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:00328769.7SMC1A, SMC3
2mitotic sister chromatid cohesionGO:00070649.4SMC1A, SMC3
3protein sumoylationGO:00169259.4SMC1A, SMC3
4sister chromatid cohesionGO:00070629.3SMC1A, SMC3
5mitotic spindle organizationGO:00070529.3SMC1A, SMC3
6DNA repairGO:00062819.0SMC1A, SMC3
7stem cell population maintenanceGO:00198279.0SMC1A, SMC3
8meiotic nuclear divisionGO:00071268.9SMC1A, SMC3

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

idNameGO IDScoreTop Affiliating Genes
1mediator complex bindingGO:00360339.6SMC1A, SMC3
2chromatin bindingGO:00036828.5KMT2A, SMC1A, SMC3

Sources for Wiedemann-Steiner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet