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WDSTS
MCID: WDM004
MIFTS: 46

Wiedemann-Steiner Syndrome (WDSTS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Wiedemann-Steiner Syndrome

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Wiedemann-Steiner Syndrome

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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 weaver syndrome and wrinkly skin 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. Affiliated tissues include bone, eye and skin, 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...

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Related Diseases for Wiedemann-Steiner Syndrome

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 weaver syndrome 11.8
2 wrinkly skin syndrome 11.7
3 woodhouse-sakati syndrome 11.5
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 hairy elbows 10.2
6 polydactyly 10.2
7 syndromic intellectual disability 10.2
8 gonadal dysgenesis 10.2
9 hypertrichosis 10.2
10 growth hormone deficiency 10.2
11 acrocephalopolysyndactyly type iii 10.1
12 intracranial aneurysm 10.1
13 pulmonary hypertension, primary, 1 10.0
14 thrombosis 10.0
15 aortic coarctation 10.0
16 sc phocomelia syndrome 9.8 SMC1A SMC3
17 cornelia de lange syndrome 9.7 KMT2A SMC1A SMC3

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



Diseases related to Wiedemann-Steiner Syndrome
Sources

Symptoms & Phenotypes for Wiedemann-Steiner Syndrome

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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:

59 32 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001252
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
11 delayed skeletal maturation 59 32 occasional (7.5%) Frequent (79-30%) HP:0002750
12 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
13 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
14 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
15 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
16 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
17 short stature 59 32 Occasional (29-5%) HP:0004322
18 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
19 stereotypy 59 32 frequent (33%) Frequent (79-30%) HP:0000733
20 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
21 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
22 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
23 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
24 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
25 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
26 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
27 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
28 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
29 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
30 rhizomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008905
31 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
32 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
33 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
34 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
35 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
36 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
37 abnormality of the elbow 59 32 frequent (33%) Frequent (79-30%) HP:0009811
38 long eyelashes 59 32 occasional (7.5%) Frequent (79-30%) HP:0000527
39 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
40 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
41 tapered finger 59 32 occasional (7.5%) Frequent (79-30%) HP:0001182
42 accelerated skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0005616
43 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
44 delayed gross motor development 59 32 frequent (33%) Frequent (79-30%) HP:0002194
45 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
46 psychomotor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002361
47 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
48 low frustration tolerance 59 32 frequent (33%) Frequent (79-30%) HP:0000744
49 aplasia/hypoplasia of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006712
50 dilatation of renal calices 59 32 occasional (7.5%) Occasional (29-5%) HP:0100581
Sources

Drugs & Therapeutics for Wiedemann-Steiner Syndrome

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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

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Genetic Tests for Wiedemann-Steiner Syndrome

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Genetic tests related to Wiedemann-Steiner Syndrome:

# Genetic test Affiliating Genes
1 Wiedemann-Steiner Syndrome 29 KMT2A
Sources

Anatomical Context for Wiedemann-Steiner Syndrome

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MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

41
Bone, Eye, Skin
Sources

Publications for Wiedemann-Steiner Syndrome

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Articles related to Wiedemann-Steiner Syndrome:

(show all 19)
# 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
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. ( 30159147 )
2018
4
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. ( 30014449 )
2018
5
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. ( 30305169 )
2018
6
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. ( 30549396 )
2018
7
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. ( 28359930 )
2017
8
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ( 27777327 )
2017
9
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ( 27759909 )
2017
10
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
11
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. ( 27320412 )
2016
12
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ( 25810209 )
2015
13
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
14
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
15
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ( 25929198 )
2015
16
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). ( 24818805 )
2014
17
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. ( 24886118 )
2014
18
De novo mutations in MLL cause Wiedemann-Steiner syndrome. ( 22795537 )
2012
19
Wiedemann-Steiner syndrome: three further cases. ( 20803650 )
2010
Sources

Variations for Wiedemann-Steiner Syndrome

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ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

6 (show top 50) (show all 84)
# 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.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs587783678 GRCh37 Chromosome 11, 118339515: 118339515
12 KMT2A NM_001197104.1(KMT2A): c.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs587783678 GRCh38 Chromosome 11, 118468800: 118468800
13 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh37 Chromosome 11, 118344547: 118344548
14 KMT2A NM_001197104.1(KMT2A): c.2673_2674delGA (p.Arg893Glufs) deletion Pathogenic rs587783676 GRCh38 Chromosome 11, 118473832: 118473833
15 KMT2A NM_001197104.1(KMT2A): c.4426T> A (p.Cys1476Ser) single nucleotide variant Uncertain significance rs587783677 GRCh37 Chromosome 11, 118359422: 118359422
16 KMT2A NM_001197104.1(KMT2A): c.4426T> A (p.Cys1476Ser) single nucleotide variant Uncertain significance rs587783677 GRCh38 Chromosome 11, 118488707: 118488707
17 KMT2A NM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter) single nucleotide variant Pathogenic rs587783679 GRCh37 Chromosome 11, 118374438: 118374438
18 KMT2A NM_001197104.1(KMT2A): c.7831G> T (p.Glu2611Ter) single nucleotide variant Pathogenic rs587783679 GRCh38 Chromosome 11, 118503723: 118503723
19 KMT2A NM_001197104.1(KMT2A): c.8095C> T (p.Arg2699Ter) single nucleotide variant Pathogenic rs587783680 GRCh37 Chromosome 11, 118374702: 118374702
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
Sources

Expression for Wiedemann-Steiner Syndrome

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

Pathways for Wiedemann-Steiner Syndrome

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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
Cell cycle 1 37
11.76 SMC1A SMC3
2
Oocyte meiosis 37
Show member pathways
 11.72 SMC1A SMC3
3
Cell cycle_Spindle assembly and chromosome separation 22
11.3 SMC1A SMC3
4
Chromatin Regulation / Acetylation 4
11.21 KMT2A SMC1A SMC3
5
Retinoblastoma (RB) in Cancer 1
11.2 SMC1A SMC3
6
ATM Pathway 64
Show member pathways
 11.1 SMC1A SMC3
7
Mitotic Telophase/Cytokinesis 66
Show member pathways
 10.37 SMC1A SMC3
Sources

GO Terms for Wiedemann-Steiner Syndrome

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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 stem cell population maintenance GO:0019827 9.32 SMC1A SMC3
3 chromosome organization GO:0051276 9.26 SMC1A SMC3
4 regulation of mitotic spindle assembly GO:1901673 9.16 SMC1A SMC3
5 sister chromatid cohesion GO:0007062 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 mediator complex binding GO:0036033 8.62 SMC1A SMC3
Sources

Sources for Wiedemann-Steiner Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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