MCID: WDM004
MIFTS: 42

Wiedemann-Steiner Syndrome

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

Aliases & Classifications for Wiedemann-Steiner Syndrome

MalaCards integrated aliases for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 54 50 24 56 71 29 13
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 50 56
Wiedemann Grosse Dibbern Syndrome 50 69
Wdsts 50 71
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 50
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 71
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 71
Growth Deficiency and Mental Retardation with Facial Dysmorphism 69
Wss 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
hairy elbows become apparent in infancy and regress during adolescence
facial appearance becomes more apparent with age


HPO:

32
wiedemann-steiner syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 short stature, failure to thrive and long eyelashes. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are Mitotic Prometaphase and SUMOylation. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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 features, including long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back (summary by Jones et al., 2012). (605130)

Related Diseases for Wiedemann-Steiner Syndrome

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

(show all 16)
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 polydactyly 10.0
7 gonadal dysgenesis 10.0
8 aneurysm 9.9
9 atherosclerosis 9.9
10 intracranial aneurysm 9.9
11 sakati syndrome 9.9
12 aortic coarctation 9.7
13 adenine phosphoribosyltransferase deficiency 9.5 SMC1A SMC3
14 spastic paraplegia 37, autosomal dominant 9.2 SMC1A SMC3
15 microphthalmia, isolated 5 8.9 KMT2A SMC1A SMC3
16 odontoclasia 8.8 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 via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
poor growth in infancy

Muscle Soft Tissue:
hypotonia
hypotonia (in some patients)
slim, muscular build (in some patients)

Head And Neck- Eyes:
thick eyebrows
strabismus
downslanting palpebral fissures
epicanthal folds
hypertelorism
more
Neurologic- Central Nervous System:
mental retardation
speech delay
wide-based gait
seizures (1 patient)

Skeletal- Hands:
fifth finger clinodactyly
short fingers
short middle phalanges
tapering fingers (in some patients)

Head And Neck- Face:
long philtrum
flat face

Skeletal- Feet:
short toes

Growth- Height:
short stature (of varying degrees)

Head And Neck- Mouth:
high-arched palate
thin upper lip
cupid's bow, exaggerated (in some patients)

Skin Nails & Hair- Hair:
thick eyebrows
hairy elbows
hypertrichosis, patchy (in some patients)
hypertrichosis, generalized (in some patients)

Head And Neck- Nose:
broad nose

Head And Neck- Ears:
low-set ears
dysmorphic ears

Neurologic- Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

Skeletal:
delayed bone age (in some patients)

Abdomen- Gastroin testinal:
constipation (in some patients)

Skin Nails & Hair- Skin:
sacral dimple (in some patients)


Clinical features from OMIM:

605130

Human phenotypes related to Wiedemann-Steiner Syndrome:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 long eyelashes 32 occasional (7.5%) HP:0000527
4 strabismus 32 HP:0000486
5 seizures 32 occasional (7.5%) HP:0001250
6 low-set ears 32 HP:0000369
7 hypertelorism 32 HP:0000316
8 intellectual disability 32 HP:0001249
9 aggressive behavior 32 HP:0000718
10 long philtrum 32 HP:0000343
11 constipation 32 occasional (7.5%) HP:0002019
12 synophrys 32 HP:0000664
13 downslanted palpebral fissures 32 HP:0000494
14 flat face 32 HP:0012368
15 broad-based gait 32 HP:0002136
16 high palate 32 HP:0000218
17 blepharophimosis 32 HP:0000581
18 epicanthus 32 HP:0000286
19 muscular hypotonia 32 occasional (7.5%) HP:0001252
20 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
21 sacral dimple 32 occasional (7.5%) HP:0000960
22 wide nose 32 HP:0000445
23 thin upper lip vermilion 32 HP:0000219
24 delayed speech and language development 32 HP:0000750
25 thick eyebrow 32 HP:0000574
26 short toe 32 HP:0001831
27 clinodactyly of the 5th finger 32 HP:0004209
28 tapered finger 32 occasional (7.5%) HP:0001182
29 short middle phalanx of finger 32 HP:0005819

Drugs & Therapeutics for Wiedemann-Steiner Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 13)
id Title Authors Year
1
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
2
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ( 27777327 )
2017
3
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. ( 28359930 )
2017
4
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ( 27759909 )
2017
5
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. ( 27320412 )
2016
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
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ( 25810209 )
2015
9
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
10
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). ( 24818805 )
2014
11
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ( 24886118 )
2014
12
De novo mutations in MLL cause Wiedemann-Steiner syndrome. ( 22795537 )
2012
13
Wiedemann-Steiner syndrome: three further cases. ( 20803650 )
2010

Variations for Wiedemann-Steiner Syndrome

ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 KMT2A NM_001197104.1(KMT2A): c.8806_8809delGTCT (p.Val2936Terfs) deletion Pathogenic rs398122878 GRCh37 Chromosome 11, 118375413: 118375416
2 KMT2A NM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs) deletion Pathogenic rs398122879 GRCh37 Chromosome 11, 118374874: 118374874
3 KMT2A NM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs) deletion Pathogenic rs398122880 GRCh37 Chromosome 11, 118373520: 118373520
4 KMT2A NM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter) single nucleotide variant Pathogenic rs387907275 GRCh37 Chromosome 11, 118373751: 118373751
5 KMT2A NM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs) duplication Pathogenic rs398122881 GRCh37 Chromosome 11, 118360867: 118360867
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 GRCh38 Chromosome 11, 118503987: 118503987
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 GRCh38 Chromosome 11, 118502703: 118502703
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
24 KMT2A NM_001197104.1(KMT2A): c.8145delA (p.Ile2717Serfs) deletion Pathogenic rs1131692268 GRCh37 Chromosome 11, 118374752: 118374752
25 KMT2A NM_001197104.1(KMT2A): c.3334+1G> A single nucleotide variant Pathogenic rs1135401764 GRCh37 Chromosome 11, 118347698: 118347698
26 KMT2A NM_001197104.1(KMT2A): c.3473G> A (p.Cys1158Tyr) single nucleotide variant Likely pathogenic rs1131691503 GRCh38 Chromosome 11, 118478105: 118478105
27 KMT2A NM_001197104.1(KMT2A): c.6158+6T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 118370634: 118370634
28 KMT2A NM_001197104.1(KMT2A): c.8543T> C (p.Leu2848Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 118375150: 118375150

Expression for Wiedemann-Steiner Syndrome

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

Pathways for Wiedemann-Steiner Syndrome

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 nuclear matrix GO:0016363 8.96 SMC3
3 cohesin complex GO:0008278 8.96 SMC1A SMC3
4 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 DNA repair GO:0006281 9.4 SMC1A SMC3
2 meiotic cell cycle GO:0051321 9.37 SMC1A SMC3
3 sister chromatid cohesion GO:0007062 9.32 SMC1A SMC3
4 stem cell population maintenance GO:0019827 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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