MCID: WDM004
MIFTS: 42

Wiedemann-Steiner Syndrome

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

Aliases & Classifications for Wiedemann-Steiner Syndrome

MalaCards integrated aliases for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 53 49 55 71 36 28 13
Wdsts 53 49 71
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 49 55
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 53 49
Wiedemann Grosse Dibbern Syndrome 49 69
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:

55
wiedemann-steiner syndrome
Inheritance: X-linked recessive;

OMIM:

53
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:

31
wiedemann-steiner syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Wiedemann-Steiner Syndrome

NIH Rare Diseases : 49 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 wdsts, 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 Basal transcription factors and Cell cycle. Affiliated tissues include bone.

OMIM : 53 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)

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.

Related Diseases for Wiedemann-Steiner Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 11.4
2 weaver syndrome 11.2
3 wrinkly skin syndrome 11.1
4 hairy elbows 10.1
5 aging 10.1
6 polydactyly 10.1
7 gonadal dysgenesis 10.1
8 acrocephalopolysyndactyly type iii 10.0
9 intracranial aneurysm 10.0
10 sakati syndrome 10.0
11 aneurysm 10.0
12 aortic coarctation 9.9
13 sc phocomelia syndrome 9.5 SMC1A SMC3
14 kbg syndrome 9.4 SMC1A SMC3
15 cornelia de lange syndrome 9.2 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:

53
Head And Neck Eyes:
hypertelorism
strabismus
synophrys
downslanting palpebral fissures
epicanthal folds
more
Growth Other:
failure to thrive
poor growth in infancy

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

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

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

Neurologic Central Nervous System:
mental retardation
wide-based gait
speech delay
seizures (1 patient)

Skeletal:
delayed bone age (in some patients)

Abdomen Gastroin testinal:
constipation (in some patients)

Head And Neck Ears:
low-set ears
dysmorphic ears

Head And Neck Face:
long philtrum
flat face

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

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

Head And Neck Nose:
broad nose

Skeletal Feet:
short toes

Growth Height:
short stature (of varying degrees)

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


Clinical features from OMIM:

605130

Human phenotypes related to Wiedemann-Steiner Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 constipation 31 occasional (7.5%) HP:0002019
2 seizures 31 occasional (7.5%) HP:0001250
3 hypertelorism 31 HP:0000316
4 low-set ears 31 HP:0000369
5 high palate 31 HP:0000218
6 intellectual disability 31 HP:0001249
7 failure to thrive 31 HP:0001508
8 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
9 delayed speech and language development 31 HP:0000750
10 thick eyebrow 31 HP:0000574
11 short stature 31 HP:0004322
12 long philtrum 31 HP:0000343
13 strabismus 31 HP:0000486
14 epicanthus 31 HP:0000286
15 flat face 31 HP:0012368
16 short toe 31 HP:0001831
17 clinodactyly of the 5th finger 31 HP:0004209
18 downslanted palpebral fissures 31 HP:0000494
19 thin upper lip vermilion 31 HP:0000219
20 aggressive behavior 31 HP:0000718
21 blepharophimosis 31 HP:0000581
22 sacral dimple 31 occasional (7.5%) HP:0000960
23 long eyelashes 31 occasional (7.5%) HP:0000527
24 synophrys 31 HP:0000664
25 wide nose 31 HP:0000445
26 tapered finger 31 occasional (7.5%) HP:0001182
27 generalized hypotonia 31 occasional (7.5%) HP:0001290
28 short middle phalanx of finger 31 HP:0005819
29 broad-based gait 31 HP:0002136

Drugs & Therapeutics for Wiedemann-Steiner Syndrome

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Wiedemann-Steiner Syndrome 28 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

38
Bone

Publications for Wiedemann-Steiner Syndrome

Articles related to Wiedemann-Steiner Syndrome:

(show all 14)
# Title Authors Year
1
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. ( 29203834 )
2018
2
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ( 27777327 )
2017
3
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ( 27759909 )
2017
4
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. ( 28359930 )
2017
5
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
6
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. ( 27320412 )
2016
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
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
9
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ( 25929198 )
2015
10
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ( 25810209 )
2015
11
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). ( 24818805 )
2014
12
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ( 24886118 )
2014
13
De novo mutations in MLL cause Wiedemann-Steiner syndrome. ( 22795537 )
2012
14
Wiedemann-Steiner syndrome: three further cases. ( 20803650 )
2010

Variations for Wiedemann-Steiner Syndrome

ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2A NM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs) deletion Pathogenic rs398122879 GRCh37 Chromosome 11, 118374874: 118374874
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.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 GRCh37 Chromosome 11, 118339515: 118339515
7 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh37 Chromosome 11, 118344547: 118344548
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 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
29 KMT2A NM_001197104.1(KMT2A): c.602_603insT (p.Lys201Asnfs) insertion Pathogenic GRCh38 Chromosome 11, 118471761: 118471762
30 KMT2A NM_001197104.1(KMT2A): c.11071+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 118510119: 118510119
31 KMT2A NM_001197104.1(KMT2A): c.3341C> A (p.Ser1114Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 118348688: 118348688

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 KEGG:

36
# Name Kegg Source Accession
1 Basal transcription factors hsa03022

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

# Super pathways Score Top Affiliating Genes
1 11.76 SMC1A SMC3
2
Show member pathways
11.72 SMC1A SMC3
3 11.3 SMC1A SMC3
4 11.2 SMC1A SMC3
5 11.2 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:

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.32 SMC1A SMC3
2 chromosome, centromeric region GO:0000775 9.26 SMC1A SMC3
3 mitotic spindle pole GO:0097431 9.16 SMC1A SMC3
4 cohesin complex GO:0008278 8.96 SMC1A SMC3
5 meiotic cohesin complex GO:0030893 8.62 SMC1A SMC3

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

# Name GO ID Score Top Affiliating Genes
1 meiotic cell cycle GO:0051321 9.37 SMC1A SMC3
2 sister chromatid cohesion GO:0007062 9.32 SMC1A SMC3
3 stem cell population maintenance GO:0019827 9.26 SMC1A SMC3
4 chromosome organization GO:0051276 9.16 SMC1A SMC3
5 regulation of mitotic spindle assembly GO:1901673 8.96 SMC1A SMC3
6 negative regulation of DNA endoreduplication GO:0032876 8.62 SMC1A SMC3

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

# Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.16 SMC1A SMC3
2 chromatin binding GO:0003682 9.13 KMT2A SMC1A SMC3
3 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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