MCID: WDM004
MIFTS: 42

Wiedemann-Steiner Syndrome

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

Aliases & Classifications for Wiedemann-Steiner Syndrome

MalaCards integrated aliases for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 57 53 59 75 37 29 13 6
Wdsts 57 53 75
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 53 59
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 57 53
Wiedemann Grosse Dibbern Syndrome 53 73
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 75
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 75
Growth Deficiency and Mental Retardation with Facial Dysmorphism 73
Syndrome, Wiedemann-Steiner 40
Wss 75

Characteristics:

Orphanet epidemiological data:

59
wiedemann-steiner syndrome
Inheritance: X-linked recessive;

OMIM:

57
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 : 53 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.

MalaCards based summary : Wiedemann-Steiner Syndrome, also known as wdsts, is related to woodhouse-sakati syndrome and weaver syndrome. 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_Spindle assembly and chromosome separation. Affiliated tissues include bone, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 Wiedemann-Steiner syndrome is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, wide nasal bridge, 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 and Miyake et al., 2016). (605130)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Wiedemann-Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial... 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 18)
# 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 alacrima, achalasia, and mental retardation syndrome 10.1
8 syndromic intellectual disability 10.1
9 gonadal dysgenesis 10.1
10 acrocephalopolysyndactyly type iii 10.0
11 intracranial aneurysm 10.0
12 sakati syndrome 10.0
13 aneurysm 10.0
14 aortic coarctation 9.9
15 sc phocomelia syndrome 9.6 SMC1A SMC3
16 kbg syndrome 9.5 SMC1A SMC3
17 cornelia de lange syndrome 9.1 KMT2A SMC1A SMC3
18 trehalase deficiency 8.7 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:

57
Head And Neck Eyes:
hypertelorism
strabismus
synophrys
downslanting palpebral fissures
epicanthal folds
more
Growth Other:
failure to thrive
poor growth in infancy

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)

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

Skeletal Feet:
short toes
fleshy feet

Growth Height:
short stature (of varying degrees)

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

Head And Neck Ears:
low-set ears
dysmorphic ears

Head And Neck Nose:
wide nasal bridge
depressed nasal tip
broad nose

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

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

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

Head And Neck Teeth:
abnormal dentition

Skeletal:
delayed bone age (in some patients)

Abdomen Gastrointestinal:
constipation (in some patients)


Clinical features from OMIM:

605130

Human phenotypes related to Wiedemann-Steiner Syndrome:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 failure to thrive 32 HP:0001508
7 constipation 32 occasional (7.5%) HP:0002019
8 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
9 delayed speech and language development 32 HP:0000750
10 thick eyebrow 32 HP:0000574
11 short stature 32 HP:0004322
12 long philtrum 32 HP:0000343
13 strabismus 32 HP:0000486
14 epicanthus 32 HP:0000286
15 flat face 32 HP:0012368
16 short toe 32 HP:0001831
17 clinodactyly of the 5th finger 32 HP:0004209
18 downslanted palpebral fissures 32 HP:0000494
19 thin upper lip vermilion 32 HP:0000219
20 aggressive behavior 32 HP:0000718
21 blepharophimosis 32 HP:0000581
22 sacral dimple 32 occasional (7.5%) HP:0000960
23 long eyelashes 32 occasional (7.5%) HP:0000527
24 synophrys 32 HP:0000664
25 wide nose 32 HP:0000445
26 tapered finger 32 occasional (7.5%) HP:0001182
27 generalized hypotonia 32 occasional (7.5%) HP:0001290
28 short middle phalanx of finger 32 HP:0005819
29 broad-based gait 32 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 29 KMT2A

Anatomical Context for Wiedemann-Steiner Syndrome

MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

41
Bone

Publications for Wiedemann-Steiner Syndrome

Articles related to Wiedemann-Steiner Syndrome:

(show all 15)
# Title Authors Year
1
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747 )
2018
2
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. ( 29203834 )
2018
3
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. ( 28359930 )
2017
4
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ( 27777327 )
2017
5
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ( 27759909 )
2017
6
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
7
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. ( 27320412 )
2016
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
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
11
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ( 25929198 )
2015
12
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). ( 24818805 )
2014
13
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ( 24886118 )
2014
14
De novo mutations in MLL cause Wiedemann-Steiner syndrome. ( 22795537 )
2012
15
Wiedemann-Steiner syndrome: three further cases. ( 20803650 )
2010

Variations for Wiedemann-Steiner Syndrome

ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2A NM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs) duplication Pathogenic rs398122881 GRCh37 Chromosome 11, 118360867: 118360867
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.8806_8809delGTCT (p.Val2936Terfs) deletion Pathogenic rs398122878 GRCh38 Chromosome 11, 118504698: 118504701
4 KMT2A NM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs) deletion Pathogenic rs398122879 GRCh37 Chromosome 11, 118374874: 118374874
5 KMT2A NM_001197104.1(KMT2A): c.8267delT (p.Leu2756Terfs) deletion Pathogenic rs398122879 GRCh38 Chromosome 11, 118504159: 118504159
6 KMT2A NM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs) deletion Pathogenic rs398122880 GRCh37 Chromosome 11, 118373520: 118373520
7 KMT2A NM_001197104.1(KMT2A): c.6913delT (p.Ser2305Leufs) deletion Pathogenic rs398122880 GRCh38 Chromosome 11, 118502805: 118502805
8 KMT2A NM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter) single nucleotide variant Pathogenic rs387907275 GRCh37 Chromosome 11, 118373751: 118373751
9 KMT2A NM_001197104.1(KMT2A): c.7144C> T (p.Arg2382Ter) single nucleotide variant Pathogenic rs387907275 GRCh38 Chromosome 11, 118503036: 118503036
10 KMT2A NM_001197104.1(KMT2A): c.4599dupT (p.Lys1534Terfs) duplication Pathogenic rs398122881 GRCh38 Chromosome 11, 118490152: 118490152
11 KMT2A NM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter) single nucleotide variant Pathogenic rs587783679 GRCh38 Chromosome 11, 118503723: 118503723
12 KMT2A NM_001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter) single nucleotide variant Pathogenic rs587783680 GRCh37 Chromosome 11, 118374702: 118374702
13 KMT2A NM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs587783678 GRCh37 Chromosome 11, 118339515: 118339515
14 KMT2A NM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs587783678 GRCh38 Chromosome 11, 118468800: 118468800
15 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh37 Chromosome 11, 118344547: 118344548
16 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh38 Chromosome 11, 118473832: 118473833
17 KMT2A NM_001197104.1(KMT2A): c.4426T> A (p.Cys1476Ser) single nucleotide variant Uncertain significance rs587783677 GRCh37 Chromosome 11, 118359422: 118359422
18 KMT2A NM_001197104.1(KMT2A): c.4426T> A (p.Cys1476Ser) single nucleotide variant Uncertain significance rs587783677 GRCh38 Chromosome 11, 118488707: 118488707
19 KMT2A NM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter) single nucleotide variant Pathogenic rs587783679 GRCh37 Chromosome 11, 118374438: 118374438
20 KMT2A NM_001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter) single nucleotide variant Pathogenic rs587783680 GRCh38 Chromosome 11, 118503987: 118503987
21 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh37 Chromosome 10, 112360774: 112360784
22 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh38 Chromosome 10, 110601016: 110601026
23 SMC1A NM_006306.3(SMC1A): c.2974-2A> G single nucleotide variant Pathogenic rs727503774 GRCh38 Chromosome X, 53383255: 53383255
24 SMC1A NM_006306.3(SMC1A): c.2974-2A> G single nucleotide variant Pathogenic rs727503774 GRCh37 Chromosome X, 53410176: 53410176
25 SMC1A NM_006306.3(SMC1A): c.121C> T (p.Leu41Phe) single nucleotide variant Pathogenic rs727503776 GRCh38 Chromosome X, 53415158: 53415158
26 SMC1A NM_006306.3(SMC1A): c.121C> T (p.Leu41Phe) single nucleotide variant Pathogenic rs727503776 GRCh37 Chromosome X, 53442107: 53442107
27 KMT2A NM_001197104.1(KMT2A): c.5494C> A (p.Pro1832Thr) single nucleotide variant Likely pathogenic rs797045051 GRCh37 Chromosome 11, 118366545: 118366545
28 KMT2A NM_001197104.1(KMT2A): c.5494C> A (p.Pro1832Thr) single nucleotide variant Likely pathogenic rs797045051 GRCh38 Chromosome 11, 118495830: 118495830
29 KMT2A NM_001197104.1(KMT2A): c.6811delA (p.Arg2271Glyfs) deletion Pathogenic rs797045656 GRCh37 Chromosome 11, 118373418: 118373418
30 KMT2A NM_001197104.1(KMT2A): c.6811delA (p.Arg2271Glyfs) deletion Pathogenic rs797045656 GRCh38 Chromosome 11, 118502703: 118502703
31 KMT2A NM_001197104.1(KMT2A): c.11084C> G (p.Ser3695Ter) single nucleotide variant Pathogenic rs782477344 GRCh37 Chromosome 11, 118382678: 118382678
32 KMT2A NM_001197104.1(KMT2A): c.11084C> G (p.Ser3695Ter) single nucleotide variant Pathogenic rs782477344 GRCh38 Chromosome 11, 118511963: 118511963
33 KMT2A NM_001197104.1(KMT2A): c.3651dupG (p.Lys1218Glufs) duplication Pathogenic rs863224887 GRCh38 Chromosome 11, 118481731: 118481731
34 KMT2A NM_001197104.1(KMT2A): c.3651dupG (p.Lys1218Glufs) duplication Pathogenic rs863224887 GRCh37 Chromosome 11, 118352446: 118352446
35 KMT2A NM_001197104.1(KMT2A): c.4086+1G> A single nucleotide variant Likely pathogenic rs863224889 GRCh38 Chromosome 11, 118482496: 118482496
36 KMT2A NM_001197104.1(KMT2A): c.4086+1G> A single nucleotide variant Likely pathogenic rs863224889 GRCh37 Chromosome 11, 118353211: 118353211
37 KMT2A NM_001197104.1(KMT2A): c.4342T> C (p.Cys1448Arg) single nucleotide variant Likely pathogenic rs863224895 GRCh38 Chromosome 11, 118488623: 118488623
38 KMT2A NM_001197104.1(KMT2A): c.4342T> C (p.Cys1448Arg) single nucleotide variant Likely pathogenic rs863224895 GRCh37 Chromosome 11, 118359338: 118359338
39 KMT2A NM_001197104.1(KMT2A): c.10334dupC (p.Ser3446Phefs) duplication Pathogenic rs863224888 GRCh38 Chromosome 11, 118506226: 118506226
40 KMT2A NM_001197104.1(KMT2A): c.10334dupC (p.Ser3446Phefs) duplication Pathogenic rs863224888 GRCh37 Chromosome 11, 118376941: 118376941
41 KMT2A NM_005933.3(KMT2A): c.2318dupC (p.Ser774Valfs) duplication Pathogenic rs1057518649 GRCh37 Chromosome 11, 118344192: 118344192
42 KMT2A NM_005933.3(KMT2A): c.2318dupC (p.Ser774Valfs) duplication Pathogenic rs1057518649 GRCh38 Chromosome 11, 118473477: 118473477
43 KMT2A NM_001197104.1(KMT2A): c.6080G> A (p.Gly2027Glu) single nucleotide variant Likely pathogenic rs1057519403 GRCh37 Chromosome 11, 118370550: 118370550
44 KMT2A NM_001197104.1(KMT2A): c.6080G> A (p.Gly2027Glu) single nucleotide variant Likely pathogenic rs1057519403 GRCh38 Chromosome 11, 118499835: 118499835
45 KMT2A NM_001197104.1(KMT2A): c.4696+1G> A single nucleotide variant Pathogenic rs1057519407 GRCh37 Chromosome 11, 118360965: 118360965
46 KMT2A NM_001197104.1(KMT2A): c.4696+1G> A single nucleotide variant Pathogenic rs1057519407 GRCh38 Chromosome 11, 118490250: 118490250
47 KMT2A NM_001197104.1(KMT2A): c.6002_6005delTTGT (p.Phe2001Trpfs) deletion Pathogenic rs1057519408 GRCh37 Chromosome 11, 118370058: 118370061
48 KMT2A NM_001197104.1(KMT2A): c.6002_6005delTTGT (p.Phe2001Trpfs) deletion Pathogenic rs1057519408 GRCh38 Chromosome 11, 118499343: 118499346
49 KMT2A NM_001197104.1(KMT2A): c.1642A> G (p.Thr548Ala) single nucleotide variant Likely benign rs1057519412 GRCh38 Chromosome 11, 118472801: 118472801
50 KMT2A NM_001197104.1(KMT2A): c.1642A> G (p.Thr548Ala) single nucleotide variant Likely benign rs1057519412 GRCh37 Chromosome 11, 118343516: 118343516

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:

37
# 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 11.3 SMC1A SMC3
2 11.21 KMT2A SMC1A SMC3
3 11.2 SMC1A SMC3
4
Show member pathways
11.1 SMC1A SMC3
5
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-containing complex binding GO:0044877 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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