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 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
Wrinkly Skin Syndrome 68
Weaver Syndrome 68
Wss 70

Characteristics:

Orphanet epidemiological data:

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

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 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.

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 long eyelashes64 rare (5%) HP:0000527
2 sacral dimple64 rare (5%) HP:0000960
3 tapered finger64 rare (5%) HP:0001182
4 seizures64 rare (5%) HP:0001250
5 muscular hypotonia64 rare (5%) HP:0001252
6 constipation64 rare (5%) HP:0002019
7 delayed skeletal maturation64 rare (5%) HP:0002750
8 high palate64 HP:0000218
9 thin upper lip vermilion64 HP:0000219
10 epicanthus64 HP:0000286
11 hypertelorism64 HP:0000316
12 long philtrum64 HP:0000343
13 low-set ears64 HP:0000369
14 wide nose64 HP:0000445
15 strabismus64 HP:0000486
16 downslanted palpebral fissures64 HP:0000494
17 thick eyebrow64 HP:0000574
18 blepharophimosis64 HP:0000581
19 synophrys64 HP:0000664
20 aggressive behavior64 HP:0000718
21 delayed speech and language development64 HP:0000750
22 intellectual disability64 HP:0001249
23 failure to thrive64 HP:0001508
24 short toe64 HP:0001831
25 broad-based gait64 HP:0002136
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

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 Syndrome27 24 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

36
Skin, Bone

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
1chromosomeGO:00056949.6SMC1A, SMC3
2chromosome, centromeric regionGO:00007759.2SMC1A, SMC3
3meiotic cohesin complexGO:00308939.0SMC1A, SMC3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00062819.7SMC1A, SMC3
2meiotic nuclear divisionGO:00071269.7SMC1A, SMC3
3mitotic sister chromatid cohesionGO:00070649.7SMC1A, SMC3
4mitotic spindle organizationGO:00070529.6SMC1A, SMC3
5negative regulation of DNA endoreduplicationGO:00328769.6SMC1A, SMC3
6protein sumoylationGO:00169259.6SMC1A, SMC3
7sister chromatid cohesionGO:00070629.5SMC1A, SMC3
8stem 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