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

Aliases & Descriptions for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 54 50 24 56 66 29 13
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 50 56
Wiedemann Grosse Dibbern Syndrome 50 69
Wdsts 50 66
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 50
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 66
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 66
Growth Deficiency and Mental Retardation with Facial Dysmorphism 69
Wss 66

Characteristics:

Orphanet epidemiological data:

56
wiedemann-steiner syndrome
Inheritance: X-linked recessive;

HPO:

32
wiedemann-steiner syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605130
Orphanet 56 ORPHA319182
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1854630
MeSH 42 D006983

Summaries for Wiedemann-Steiner Syndrome

NIH Rare Diseases : 50 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 constipation, seizures and hypertelorism. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are Cell cycle and Oocyte meiosis. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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 : 54 Wiedemann-Steiner syndrome is characterized by hypertrichosis cubiti associated with short stature; consistent facial... (605130) more...

Related Diseases for Wiedemann-Steiner Syndrome

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 11.3
2 weaver syndrome 11.0
3 wrinkly skin syndrome 10.9
4 weaver syndrome 1 10.8
5 hairy elbows 10.0
6 gonadal dysgenesis 10.0
7 atherosclerosis 9.9
8 intracranial aneurysm 9.9
9 sakati syndrome 9.9
10 aneurysm 9.9
11 pik3ca-associated segmental overgrowth 9.8 SMC1A SMC3
12 odontoclasia 9.8 SMC1A SMC3
13 osteogenesis imperfecta, type xiii 9.8 SMC1A SMC3
14 aortic coarctation 9.7
15 hyperammonemia due to carbonic anhydrase va deficiency 9.7 SMC1A SMC3
16 glucocorticoid deficiency 4 9.6 KMT2A SMC1A SMC3
17 nanophthalmos 2 9.4 ATP6V0A2 KMT2A SMC1A SMC3

Graphical network of the top 20 diseases related to Wiedemann-Steiner Syndrome:



Diseases related to Wiedemann-Steiner Syndrome

Symptoms & Phenotypes for Wiedemann-Steiner Syndrome

Symptoms by clinical synopsis from OMIM:

605130

Clinical features from OMIM:

605130

Human phenotypes related to Wiedemann-Steiner Syndrome:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 seizures 32 HP:0001250
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 high palate 32 HP:0000218
6 intellectual disability 32 HP:0001249
7 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 HP:0001508
9 delayed skeletal maturation 32 HP:0002750
10 delayed speech and language development 32 HP:0000750
11 thick eyebrow 32 HP:0000574
12 short stature 32 HP:0004322
13 long philtrum 32 HP:0000343
14 strabismus 32 HP:0000486
15 epicanthus 32 HP:0000286
16 flat face 32 HP:0012368
17 short toe 32 HP:0001831
18 clinodactyly of the 5th finger 32 HP:0004209
19 downslanted palpebral fissures 32 HP:0000494
20 thin upper lip vermilion 32 HP:0000219
21 aggressive behavior 32 HP:0000718
22 blepharophimosis 32 HP:0000581
23 sacral dimple 32 HP:0000960
24 long eyelashes 32 HP:0000527
25 synophrys 32 HP:0000664
26 wide nose 32 HP:0000445
27 tapered finger 32 HP:0001182
28 short middle phalanx of finger 32 HP:0005819
29 broad-based gait 32 HP:0002136

Drugs & Therapeutics for Wiedemann-Steiner Syndrome

Search Clinical Trials , NIH Clinical Center for Wiedemann-Steiner Syndrome

Genetic Tests for Wiedemann-Steiner Syndrome

Genetic tests related to Wiedemann-Steiner Syndrome:

id Genetic test Affiliating Genes
1 Wiedemann-Steiner Syndrome 29 24 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

39
Bone

Publications for Wiedemann-Steiner Syndrome

Articles related to Wiedemann-Steiner Syndrome:

(show all 12)
id Title Authors Year
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

ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 KMT2A NM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs) duplication Pathogenic rs398122881 GRCh38 Chromosome 11, 118490152: 118490152
2 KMT2A NM_001197104.1(KMT2A): c.8806_8809delGTCT (p.Val2936Terfs) deletion Pathogenic rs398122878 GRCh37 Chromosome 11, 118375413: 118375416
3 KMT2A NM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs) deletion Pathogenic rs398122879 GRCh37 Chromosome 11, 118374874: 118374874
4 KMT2A NM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs) deletion Pathogenic rs398122880 GRCh37 Chromosome 11, 118373520: 118373520
5 KMT2A NM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter) single nucleotide variant Pathogenic rs387907275 GRCh37 Chromosome 11, 118373751: 118373751
6 KMT2A NM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs587783678 GRCh38 Chromosome 11, 118468800: 118468800
7 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh38 Chromosome 11, 118473832: 118473833
8 KMT2A NM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter) single nucleotide variant Pathogenic rs587783679 GRCh38 Chromosome 11, 118503723: 118503723
9 KMT2A NM_001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter) single nucleotide variant Pathogenic rs587783680 GRCh37 Chromosome 11, 118374702: 118374702
10 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh37 Chromosome 10, 112360774: 112360784
11 SMC1A NM_006306.3(SMC1A): c.2974-2A> G single nucleotide variant Pathogenic rs727503774 GRCh38 Chromosome X, 53383255: 53383255
12 SMC1A NM_006306.3(SMC1A): c.121C> T (p.Leu41Phe) single nucleotide variant Pathogenic rs727503776 GRCh38 Chromosome X, 53415158: 53415158
13 KMT2A NM_001197104.1(KMT2A): c.5494C> A (p.Pro1832Thr) single nucleotide variant Likely pathogenic rs797045051 GRCh37 Chromosome 11, 118366545: 118366545
14 KMT2A NM_001197104.1(KMT2A): c.6811delA (p.Arg2271Glyfs) deletion Pathogenic rs797045656 GRCh37 Chromosome 11, 118373418: 118373418
15 KMT2A NM_001197104.1(KMT2A): c.11084C> G (p.Ser3695Ter) single nucleotide variant Pathogenic rs782477344 GRCh38 Chromosome 11, 118511963: 118511963
16 KMT2A NM_001197104.1(KMT2A): c.3651dupG (p.Lys1218Glufs) duplication Pathogenic rs863224887 GRCh38 Chromosome 11, 118481731: 118481731
17 KMT2A NM_001197104.1(KMT2A): c.4086+1G> A single nucleotide variant Likely pathogenic rs863224889 GRCh38 Chromosome 11, 118482496: 118482496
18 KMT2A NM_001197104.1(KMT2A): c.4342T> C (p.Cys1448Arg) single nucleotide variant Likely pathogenic rs863224895 GRCh38 Chromosome 11, 118488623: 118488623
19 KMT2A NM_001197104.1(KMT2A): c.10334dupC (p.Ser3446Phefs) duplication Pathogenic rs863224888 GRCh38 Chromosome 11, 118506226: 118506226
20 KMT2A NM_005933.3(KMT2A): c.2318dupC (p.Ser774Valfs) duplication Pathogenic rs1057518649 GRCh37 Chromosome 11, 118344192: 118344192
21 KMT2A NM_001197104.1(KMT2A): c.6080G> A (p.Gly2027Glu) single nucleotide variant Likely pathogenic rs1057519403 GRCh37 Chromosome 11, 118370550: 118370550
22 KMT2A NM_001197104.1(KMT2A): c.4696+1G> A single nucleotide variant Pathogenic rs1057519407 GRCh37 Chromosome 11, 118360965: 118360965
23 KMT2A NM_001197104.1(KMT2A): c.6002_6005delTTGT (p.Phe2001Trpfs) deletion Pathogenic rs1057519408 GRCh37 Chromosome 11, 118370058: 118370061

Expression for Wiedemann-Steiner Syndrome

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

Pathways for Wiedemann-Steiner Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.76 SMC1A SMC3
2
Show member pathways
11.71 SMC1A SMC3
3 11.3 SMC1A SMC3
4 11.2 SMC1A SMC3
5 11.17 KMT2A SMC1A SMC3
6
Show member pathways
11.1 SMC1A SMC3
7
Show member pathways
10.37 SMC1A SMC3

GO Terms for Wiedemann-Steiner Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 chromosome, centromeric region GO:0000775 9.16 SMC1A SMC3
2 cohesin complex GO:0008278 8.96 SMC1A SMC3
3 meiotic cohesin complex GO:0030893 8.62 SMC1A SMC3

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

id Name GO ID Score Top Affiliating Genes
1 meiotic cell cycle GO:0051321 9.4 SMC1A SMC3
2 sister chromatid cohesion GO:0007062 9.37 SMC1A SMC3
3 stem cell population maintenance GO:0019827 9.32 SMC1A SMC3
4 meiotic nuclear division GO:0007126 9.26 SMC1A SMC3
5 chromosome organization GO:0051276 9.16 SMC1A SMC3
6 mitotic sister chromatid cohesion GO:0007064 8.96 SMC1A SMC3
7 negative regulation of DNA endoreduplication GO:0032876 8.62 SMC1A SMC3

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.13 KMT2A SMC1A SMC3
2 mediator complex binding GO:0036033 8.62 SMC1A SMC3

Sources for Wiedemann-Steiner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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