WDSTS
MCID: WDM004
MIFTS: 45

Wiedemann-Steiner Syndrome (WDSTS)

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

Aliases & Classifications for Wiedemann-Steiner Syndrome

MalaCards integrated aliases for Wiedemann-Steiner Syndrome:

Name: Wiedemann-Steiner Syndrome 56 52 58 73 36 29 13 6
Wdsts 56 52 73
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 52 58
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 56 52
Wiedemann Grosse Dibbern Syndrome 52 71
Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay 73
Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay 73
Growth Deficiency and Mental Retardation with Facial Dysmorphism 71
Syndrome, Wiedemann-Steiner 39
Wss 73

Characteristics:

Orphanet epidemiological data:

58
wiedemann-steiner syndrome
Inheritance: X-linked recessive;

OMIM:

56
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Wiedemann-Steiner Syndrome

KEGG : 36 Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. Sharing clinical features with Cornelia de Lange syndrome, WDSTS is another heterogeneous disease. WDSTS is caused by heterozygous mutations in KMT2A, also known as MLL. KMT2A encodes a histone methyltransferase that plays an important role in early development and hematopoiesis. Recently, an autosomal-recessive disorder with Cornelia de Lange syndrome-like features has been reported and termed Alazami-Yuan syndrome. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component.

MalaCards based summary : Wiedemann-Steiner Syndrome, also known as wdsts, is related to alacrima, achalasia, and mental retardation syndrome and familial isolated trichomegaly. 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 delayed speech and language development and delayed skeletal maturation

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 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 : 74 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 30.1 SMC3 KMT2A
2 familial isolated trichomegaly 29.6 SMC3 SMC1A
3 wrinkly skin syndrome 12.1
4 woodhouse-sakati syndrome 12.0
5 weaver syndrome 11.6
6 hypertrichosis 10.8
7 hairy elbows 10.7
8 hypotonia 10.5
9 hypertelorism 10.4
10 microcephaly 10.4
11 atherosclerosis susceptibility 10.3
12 intracranial aneurysm 10.3
13 carotid stenosis 10.3
14 epicanthus 10.2
15 developmental dysplasia of the hip 1 10.2
16 kabuki syndrome 1 10.2
17 strabismus 10.2
18 chromosome 2q35 duplication syndrome 10.2
19 telecanthus 10.2
20 insulin-like growth factor i 10.2
21 polydactyly 10.2
22 patent ductus arteriosus 1 10.2
23 syndromic intellectual disability 10.2
24 ptosis 10.2
25 blepharophimosis 10.2
26 suppression amblyopia 10.2
27 amblyopia 10.2
28 microphthalmia 10.2
29 gonadal dysgenesis 10.2
30 ventricular septal defect 10.2
31 lipid metabolism disorder 10.2
32 hair disease 10.2
33 pituitary hypoplasia 10.2
34 mechanical strabismus 10.2
35 fibromatosis 10.2
36 growth hormone deficiency 10.2
37 acrocephalopolysyndactyly type iii 10.1
38 coarctation of aorta 10.1
39 pulmonary hypertension, primary, 1 10.1
40 branchiootic syndrome 1 10.1
41 vascular disease 10.1
42 hypogonadism 10.1
43 alopecia 10.1
44 aneurysm 10.1
45 cerebral aneurysms 10.1
46 pulmonary arterial hypertension associated with another disease 10.1
47 sc phocomelia syndrome 9.6 SMC3 SMC1A
48 chronic atrial and intestinal dysrhythmia 9.6 SMC3 SMC1A
49 warsaw breakage syndrome 9.5 SMC3 SMC1A
50 eyelid disease 9.5 SMC3 SMC1A

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



Diseases related to Wiedemann-Steiner Syndrome

Symptoms & Phenotypes for Wiedemann-Steiner Syndrome

Human phenotypes related to Wiedemann-Steiner Syndrome:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 delayed skeletal maturation 58 31 occasional (7.5%) Frequent (79-30%) HP:0002750
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 muscular hypotonia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001252
5 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
6 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
7 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
10 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
11 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
12 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
13 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
14 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
15 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
16 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
17 tapered finger 58 31 occasional (7.5%) Frequent (79-30%) HP:0001182
18 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
19 long eyelashes 58 31 occasional (7.5%) Frequent (79-30%) HP:0000527
20 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
21 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
22 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
23 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
24 low frustration tolerance 58 31 frequent (33%) Frequent (79-30%) HP:0000744
25 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
26 growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000824
27 congenital, generalized hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0004540
28 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
29 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
32 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
33 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
34 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
35 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
36 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
37 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
38 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
39 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
40 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
41 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
42 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
43 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
44 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
45 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
46 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
47 rhizomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008905
48 psychomotor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002361
49 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
50 aplasia/hypoplasia of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006712

Symptoms via clinical synopsis from OMIM:

56
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 Ears:
low-set ears
dysmorphic ears

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

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

Neurologic Central Nervous System:
mental retardation
wide-based gait
speech delay
delayed psychomotor development
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 Nose:
wide nasal bridge
depressed nasal tip
broad nose

Head And Neck Face:
flat face
long philtrum

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

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

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

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:

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

Anatomical Context for Wiedemann-Steiner Syndrome

MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

40
Bone

Publications for Wiedemann-Steiner Syndrome

Articles related to Wiedemann-Steiner Syndrome:

(show all 41)
# Title Authors PMID Year
1
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 61 56 6
25810209 2016
2
De novo mutations in MLL cause Wiedemann-Steiner syndrome. 6 56 61
22795537 2012
3
Wiedemann-Steiner syndrome: three further cases. 56 61
20803650 2010
4
A new case of hairy elbows syndrome (hypertrichosis cubiti). 56
18019374 2007
5
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. 56
16355816 2005
6
Hypertrichosis cubiti: two new cases and a review of the literature. 56
12558109 2002
7
Growth deficiency, mental retardation and unusual facies. 56
10826636 2000
8
Hypertrichosis "cubiti" with facial asymmetry. 56
7802037 1994
9
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 56
2738900 1989
10
Hypertrichosis cubiti. 56
2773989 1989
11
Familial hypertrichosis cubiti: hairy elbows syndrome. 56
5519603 1970
12
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation. 61
32483278 2020
13
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India. 61
32128942 2020
14
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
15
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
16
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report. 61
32246869 2020
17
Wiedemann-Steiner syndrome in two patients from Portugal. 61
31710778 2020
18
A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report. 61
31250358 2019
19
A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia. 61
30841869 2019
20
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. 61
31168168 2019
21
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. 61
30549396 2019
22
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. 61
31044088 2019
23
[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay]. 61
30440138 2018
24
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. 61
30305169 2018
25
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. 61
30014449 2018
26
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. 61
29574747 2018
27
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. 61
29633245 2018
28
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. 61
30159147 2018
29
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. 61
29203834 2018
30
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. 61
28815892 2017
31
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 61
28359930 2017
32
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. 61
28623346 2017
33
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 61
27777327 2017
34
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 61
27759909 2017
35
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. 61
27320412 2016
36
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. 61
26690532 2015
37
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 61
25929198 2015
38
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 61
25574841 2015
39
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. 61
26544196 2015
40
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). 61
24818805 2014
41
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. 61
24886118 2014

Variations for Wiedemann-Steiner Syndrome

ClinVar genetic disease variations for Wiedemann-Steiner Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2A NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs)insertion Pathogenic 440482 rs1555035550 11:118342476-118342477 11:118471761-118471762
2 KMT2A NM_001197104.1(KMT2A):c.11071+1G>ASNV Pathogenic 446424 rs1555049702 11:118380834-118380834 11:118510119-118510119
3 KMT2A NM_001197104.1(KMT2A):c.7438C>T (p.Arg2480Ter)SNV Pathogenic 449960 rs1555046568 11:118374045-118374045 11:118503330-118503330
4 KMT2A NM_001197104.1(KMT2A):c.3341C>A (p.Ser1114Ter)SNV Pathogenic 488383 rs1555038029 11:118348688-118348688 11:118477973-118477973
5 KMT2A NM_001197104.1(KMT2A):c.2896A>T (p.Arg966Ter)SNV Pathogenic 522659 rs1555036801 11:118344770-118344770 11:118474055-118474055
6 KMT2A NM_001197104.1(KMT2A):c.3521T>G (p.Leu1174Ter)SNV Pathogenic 522805 rs1555038111 11:118348868-118348868 11:118478153-118478153
7 KMT2A NM_005933.4(KMT2A):c.3566G>A (p.Cys1189Tyr)SNV Pathogenic 523095 rs1555038125 11:118348913-118348913 11:118478198-118478198
8 KMT2A NM_005933.4(KMT2A):c.1038del (p.Val347fs)deletion Pathogenic 523096 rs1555035779 11:118342912-118342912 11:118472197-118472197
9 KMT2A NM_005933.4(KMT2A):c.8140del (p.Ile2714fs)deletion Pathogenic 430946 rs1131692268 11:118374752-118374752 11:118504037-118504037
10 KMT2A NM_001197104.1(KMT2A):c.3334+1G>ASNV Pathogenic 431178 rs1135401764 11:118347698-118347698 11:118476983-118476983
11 KMT2A NM_005933.4(KMT2A):c.8261dup (p.Ile2755fs)duplication Pathogenic 562035 rs1565304395 11:118374874-118374875 11:118504159-118504160
12 KMT2A NM_005933.4(KMT2A):c.11022del (p.Ser3675fs)deletion Pathogenic 562045 rs1565310297 11:118380792-118380792 11:118510077-118510077
13 KMT2A NM_005933.4(KMT2A):c.4012+2T>ASNV Pathogenic 689770 11:118352809-118352809 11:118482094-118482094
14 KMT2A NM_001197104.2(KMT2A):c.4032del (p.Val1347fs)deletion Pathogenic 691252 11:118353156-118353156 11:118482441-118482441
15 KMT2A NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs)deletion Pathogenic 694676 11:118376982-118376982 11:118506267-118506267
16 KMT2A NM_001197104.2(KMT2A):c.173dup (p.Ala59fs)duplication Pathogenic 802795 11:118307393-118307394 11:118436678-118436679
17 KMT2A NM_001197104.2(KMT2A):c.502+1G>ASNV Pathogenic 802796 11:118339560-118339560 11:118468845-118468845
18 KMT2A NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter)SNV Pathogenic 802797 11:118348802-118348802 11:118478087-118478087
19 KMT2A NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)SNV Pathogenic 802798 11:118350911-118350911 11:118480196-118480196
20 KMT2A NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs)deletion Pathogenic 802799 11:118352473-118352476 11:118481758-118481761
21 KMT2A NM_001197104.2(KMT2A):c.1844del (p.Pro615fs)deletion Pathogenic 807622 11:118343717-118343717 11:118473002-118473002
22 KMT2A NM_001197104.2(KMT2A):c.3157-7_3161deldeletion Pathogenic 807434 11:118347510-118347521 11:118476795-118476806
23 KMT2A NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter)SNV Pathogenic 816873 11:118342446-118342446 11:118471731-118471731
24 KMT2A NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs)insertion Pathogenic 816900 11:118342808-118342809 11:118472093-118472094
25 KMT2A NM_001197104.2(KMT2A):c.8404_8408GCTCA[2] (p.Ser2805fs)short repeat Pathogenic 816901 11:118375010-118375014 11:118504295-118504299
26 KMT2A NM_005933.4(KMT2A):c.8793_8796GTCT[1] (p.Ser2932_Val2933insTer)short repeat Pathogenic 37071 rs398122878 11:118375406-118375409 11:118504691-118504694
27 KMT2A NM_005933.4(KMT2A):c.8258del (p.Asn2752_Leu2753insTer)deletion Pathogenic 37072 rs398122879 11:118374873-118374873 11:118504158-118504158
28 KMT2A NM_005933.4(KMT2A):c.6904del (p.Ser2302fs)deletion Pathogenic 37073 rs398122880 11:118373520-118373520 11:118502805-118502805
29 KMT2A NM_005933.4(KMT2A):c.7135C>T (p.Arg2379Ter)SNV Pathogenic 37074 rs387907275 11:118373751-118373751 11:118503036-118503036
30 KMT2A NM_005933.4(KMT2A):c.4599dup (p.Lys1534Ter)duplication Pathogenic 37075 rs398122881 11:118360866-118360867 11:118490151-118490152
31 KMT2A NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter)SNV Pathogenic 158704 rs587783678 11:118339515-118339515 11:118468800-118468800
32 KMT2A NM_005933.4(KMT2A):c.2671_2672GA[1] (p.Arg893fs)short repeat Pathogenic 158701 rs587783676 11:118344544-118344545 11:118473829-118473830
33 KMT2A NM_005933.4(KMT2A):c.5612dup (p.Gln1872fs)duplication Pathogenic 419205 rs1555043939 11:118367038-118367039 11:118496323-118496324
34 KMT2A NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs)deletion Pathogenic 802802 11:118374250-118374250 11:118503535-118503535
35 KMT2A NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs)deletion Pathogenic 802803 11:118374504-118374504 11:118503789-118503789
36 KMT2A NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter)SNV Pathogenic 158708 rs587783679 11:118374438-118374438 11:118503723-118503723
37 KMT2A NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter)SNV Pathogenic 158709 rs587783680 11:118374702-118374702 11:118503987-118503987
38 SMC3 NM_005445.3(SMC3):c.2536-5_2541deldeletion Pathogenic 180199 rs727503775 10:112360774-112360784 10:110601016-110601026
39 SMC1A NM_001281463.1(SMC1A):c.2908-2A>GSNV Pathogenic 180198 rs727503774 X:53410176-53410176 X:53383255-53383255
40 SMC1A NM_001281463.1(SMC1A):c.55C>T (p.Leu19Phe)SNV Pathogenic 180200 rs727503776 X:53442107-53442107 X:53415158-53415158
41 KMT2A NM_001197104.1(KMT2A):c.6811del (p.Arg2271fs)deletion Pathogenic 211315 rs797045656 11:118373416-118373416 11:118502701-118502701
42 KMT2A NM_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter)SNV Pathogenic 211312 rs782477344 11:118382678-118382678 11:118511963-118511963
43 KMT2A NM_005933.4(KMT2A):c.3651dup (p.Lys1218fs)duplication Pathogenic 216951 rs863224887 11:118352445-118352446 11:118481730-118481731
44 KMT2A NM_005933.4(KMT2A):c.10325dup (p.Ser3443fs)duplication Pathogenic 216952 rs863224888 11:118376939-118376940 11:118506224-118506225
45 KMT2A NM_005933.4(KMT2A):c.2318dup (p.Ser774fs)duplication Pathogenic 374257 rs782297546 11:118344185-118344186 11:118473470-118473471
46 KMT2A NM_001197104.1(KMT2A):c.4696+1G>ASNV Pathogenic 375623 rs1057519407 11:118360965-118360965 11:118490250-118490250
47 KMT2A NM_001197104.1(KMT2A):c.6002_6005del (p.Phe2001fs)deletion Pathogenic 375624 rs1057519408 11:118370055-118370058 11:118499340-118499343
48 KMT2A NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr)SNV Pathogenic/Likely pathogenic 372920 rs1057518074 11:118348811-118348811 11:118478096-118478096
49 KMT2A NM_001197104.1(KMT2A):c.7567_7570del (p.Val2523fs)deletion Pathogenic/Likely pathogenic 191274 rs797044565 11:118374172-118374175 11:118503457-118503460
50 KMT2A NM_005933.4(KMT2A):c.3460C>T (p.Arg1154Trp)SNV Pathogenic/Likely pathogenic 431895 rs1555038090 11:118348807-118348807 11:118478092-118478092

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 11.3 SMC3 SMC1A
2 11.21 SMC3 SMC1A KMT2A
3 11.2 SMC3 SMC1A
4
Show member pathways
11.1 SMC3 SMC1A
5
Show member pathways
10.37 SMC3 SMC1A

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 chromosome, centromeric region GO:0000775 9.32 SMC3 SMC1A
2 nuclear matrix GO:0016363 9.26 SMC3 SMC1A
3 mitotic spindle pole GO:0097431 9.16 SMC3 SMC1A
4 cohesin complex GO:0008278 8.96 SMC3 SMC1A
5 meiotic cohesin complex GO:0030893 8.62 SMC3 SMC1A

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 SMC3 SMC1A
2 stem cell population maintenance GO:0019827 9.32 SMC3 SMC1A
3 mitotic spindle assembly GO:0090307 9.26 SMC3 SMC1A
4 chromosome organization GO:0051276 9.16 SMC3 SMC1A
5 sister chromatid cohesion GO:0007062 8.96 SMC3 SMC1A
6 regulation of mitotic spindle assembly GO:1901673 8.62 SMC3 SMC1A

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 SMC3 SMC1A

Sources for Wiedemann-Steiner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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