WDSTS
MCID: WDM004
MIFTS: 48

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 57 20 58 73 36 29 13 6
Wdsts 57 20 73
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome 20 58
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay 57 20
Wiedemann Grosse Dibbern Syndrome 20 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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings. People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems; and seizures. Because WSS has been reported in a small number of individuals, there is not much information on how the symptoms and features change over time. WSS is caused by genetic changes in the KMT2A gene. Most individuals with WSS are the only ones in their family with this condition. In a few cases, WSS has been inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms and clinical exam, and it is confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.

MalaCards based summary : Wiedemann-Steiner Syndrome, also known as wdsts, is related to hypertrichosis and kabuki syndrome 1. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are Basal transcription factors and Chromatin Regulation / Acetylation. Affiliated tissues include eye and bone, and related phenotypes are delayed speech and language development and dysphagia

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, broad 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) (Updated 05-Mar-2021)

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.

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 69)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 30.5 KMT2A ARID1B
2 kabuki syndrome 1 30.0 KMT2A CHD7
3 familial isolated trichomegaly 29.1 SMC3 SMC1A KMT2A ARID1B
4 microcephaly 28.9 SMC1A KMT2A CHD7 ARID1B
5 wrinkly skin syndrome 11.5
6 weaver syndrome 11.3
7 woodhouse-sakati syndrome 11.3
8 alacrima, achalasia, and mental retardation syndrome 10.7
9 hairy elbows 10.6
10 hypotonia 10.5
11 hypertelorism 10.2
12 polydactyly 10.2
13 aneurysm 10.1
14 chiari malformation type i 10.1
15 epicanthus 10.1
16 developmental dysplasia of the hip 1 10.1
17 strabismus 10.1
18 chromosome 2q35 duplication syndrome 10.1
19 telecanthus 10.1
20 immune deficiency disease 10.1
21 insulin-like growth factor i 10.1
22 patent ductus arteriosus 1 10.1
23 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.1
24 syndromic intellectual disability 10.1
25 autism spectrum disorder 10.1
26 ptosis 10.1
27 blepharophimosis 10.1
28 suppression amblyopia 10.1
29 amblyopia 10.1
30 microphthalmia 10.1
31 gonadal dysgenesis 10.1
32 ventricular septal defect 10.1
33 disorder of sexual development 10.1
34 lipid metabolism disorder 10.1
35 pituitary hypoplasia 10.1
36 mechanical strabismus 10.1
37 chiari malformation 10.1
38 fibromatosis 10.1
39 growth hormone deficiency 10.1
40 atherosclerosis susceptibility 10.0
41 intracranial aneurysm 10.0
42 carotid stenosis 10.0
43 cornelia de lange syndrome 1 10.0 SMC3 KMT2A
44 chromosome 16p13.3 deletion syndrome, proximal 10.0 SMC1A KMT2A
45 cornelia de lange syndrome 3 with or without midline brain defects 9.9 SMC3 SMC1A
46 cornelia de lange syndrome 4 with or without midline brain defects 9.9 SMC3 SMC1A
47 chronic atrial and intestinal dysrhythmia 9.9 SMC3 SMC1A
48 warsaw breakage syndrome 9.9 SMC3 SMC1A
49 eyelid disease 9.9 SMC3 SMC1A
50 roberts-sc phocomelia syndrome 9.9 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 75)
# 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 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 delayed skeletal maturation 58 31 occasional (7.5%) Frequent (79-30%) HP:0002750
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
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 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
9 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
10 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
11 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
12 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
13 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
14 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
15 tapered finger 58 31 occasional (7.5%) Frequent (79-30%) HP:0001182
16 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
17 long eyelashes 58 31 occasional (7.5%) Frequent (79-30%) HP:0000527
18 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
19 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
20 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
21 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
22 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
23 low frustration tolerance 58 31 frequent (33%) Frequent (79-30%) HP:0000744
24 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
25 congenital, generalized hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0004540
26 hypotonia 31 occasional (7.5%) HP:0001252
27 decreased response to growth hormone stimuation test 31 frequent (33%) HP:0000824
28 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
29 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
30 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
31 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
32 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
33 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
34 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
35 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
36 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
37 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
38 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor growth in infancy

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

Head And Neck Ears:
low-set ears
dysmorphic ears

Muscle Soft Tissue:
hypotonia
hypotonia (in some patients)
slim, muscular build (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 Eyes:
hypertelorism
strabismus
synophrys
downslanting palpebral fissures
epicanthal folds
more
Head And Neck Face:
flat face
long philtrum

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

Head And Neck Mouth:
thin upper lip
high-arched palate
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 Teeth:
abnormal dentition

Skeletal:
delayed bone age (in some patients)

Abdomen Gastrointestinal:
constipation (in some patients)

Clinical features from OMIM®:

605130 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Wiedemann-Steiner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 ARID1B CHD7 KMT2A SMC3

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
Eye, Bone

Publications for Wiedemann-Steiner Syndrome

Articles related to Wiedemann-Steiner Syndrome:

(show all 48)
# Title Authors PMID Year
1
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 57 6 61
25810209 2016
2
De novo mutations in MLL cause Wiedemann-Steiner syndrome. 61 57 6
22795537 2012
3
Wiedemann-Steiner syndrome: three further cases. 61 57
20803650 2010
4
A new case of hairy elbows syndrome (hypertrichosis cubiti). 57
18019374 2007
5
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. 57
16355816 2005
6
Hypertrichosis cubiti: two new cases and a review of the literature. 57
12558109 2002
7
Growth deficiency, mental retardation and unusual facies. 57
10826636 2000
8
Hypertrichosis "cubiti" with facial asymmetry. 57
7802037 1994
9
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 57
2738900 1989
10
Hypertrichosis cubiti. 57
2773989 1989
11
Familial hypertrichosis cubiti: hairy elbows syndrome. 57
5519603 1970
12
[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case]. 61
33565066 2021
13
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. 61
32641752 2021
14
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. 61
33043602 2020
15
Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report. 61
33325147 2020
16
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. 61
33387673 2020
17
Corrigendum to "Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. Am J Med Genet Part A. 2017;173A:2821-2,825". 61
33200915 2020
18
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
19
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report. 61
32246869 2020
20
Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years. 61
32604375 2020
21
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation. 61
32483278 2020
22
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India. 61
32128942 2020
23
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
24
Wiedemann-Steiner syndrome in two patients from Portugal. 61
31710778 2020
25
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
26
A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia. 61
30841869 2019
27
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. 61
31168168 2019
28
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. 61
30549396 2019
29
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. 61
31044088 2019
30
[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay]. 61
30440138 2018
31
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. 61
30305169 2018
32
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. 61
30014449 2018
33
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. 61
29633245 2018
34
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. 61
29574747 2018
35
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. 61
30159147 2018
36
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. 61
29203834 2018
37
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. 61
28815892 2017
38
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 61
28359930 2017
39
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. 61
28623346 2017
40
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 61
27777327 2017
41
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 61
27759909 2017
42
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. 61
27320412 2016
43
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
44
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 61
25929198 2015
45
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 61
25574841 2015
46
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. 61
26544196 2015
47
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). 61
24818805 2014
48
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:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2A NM_005933.4(KMT2A):c.8793_8796GTCT[1] (p.Ser2932_Val2933insTer) Microsatellite Pathogenic 37071 rs398122878 11:118375406-118375409 11:118504691-118504694
2 KMT2A NM_005933.4(KMT2A):c.8258del (p.Asn2752_Leu2753insTer) Deletion Pathogenic 37072 rs398122879 11:118374873-118374873 11:118504158-118504158
3 KMT2A NM_005933.4(KMT2A):c.6904del (p.Ser2302fs) Deletion Pathogenic 37073 rs398122880 11:118373520-118373520 11:118502805-118502805
4 KMT2A NM_005933.4(KMT2A):c.7135C>T (p.Arg2379Ter) SNV Pathogenic 37074 rs387907275 11:118373751-118373751 11:118503036-118503036
5 KMT2A NM_005933.4(KMT2A):c.4599dup (p.Lys1534Ter) Duplication Pathogenic 37075 rs398122881 11:118360866-118360867 11:118490151-118490152
6 KMT2A NM_005933.4(KMT2A):c.2671_2672GA[1] (p.Arg893fs) Microsatellite Pathogenic 158701 rs587783676 11:118344544-118344545 11:118473829-118473830
7 KMT2A NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter) SNV Pathogenic 158704 rs587783678 11:118339515-118339515 11:118468800-118468800
8 KMT2A NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter) SNV Pathogenic 158708 rs587783679 11:118374438-118374438 11:118503723-118503723
9 KMT2A NM_005933.4(KMT2A):c.8086C>T (p.Arg2696Ter) SNV Pathogenic 158709 rs587783680 11:118374702-118374702 11:118503987-118503987
10 SMC1A NM_001281463.1(SMC1A):c.2908-2A>G SNV Pathogenic 180198 rs727503774 X:53410176-53410176 X:53383255-53383255
11 SMC3 NM_005445.3(SMC3):c.2536-5_2541del Deletion Pathogenic 180199 rs727503775 10:112360774-112360784 10:110601016-110601026
12 SMC1A NM_001281463.1(SMC1A):c.55C>T (p.Leu19Phe) SNV Pathogenic 180200 rs727503776 X:53442107-53442107 X:53415158-53415158
13 KMT2A NM_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter) SNV Pathogenic 211312 rs782477344 11:118382678-118382678 11:118511963-118511963
14 KMT2A NM_001197104.1(KMT2A):c.6811del (p.Arg2271fs) Deletion Pathogenic 211315 rs797045656 11:118373416-118373416 11:118502701-118502701
15 KMT2A NM_005933.4(KMT2A):c.10325dup (p.Ser3443fs) Duplication Pathogenic 216952 rs863224888 11:118376939-118376940 11:118506224-118506225
16 KMT2A NM_005933.4(KMT2A):c.3651dup (p.Lys1218fs) Duplication Pathogenic 216951 rs863224887 11:118352445-118352446 11:118481730-118481731
17 KMT2A NM_005933.4(KMT2A):c.2318dup (p.Ser774fs) Duplication Pathogenic 374257 rs782297546 11:118344185-118344186 11:118473470-118473471
18 KMT2A NM_001197104.1(KMT2A):c.4696+1G>A SNV Pathogenic 375623 rs1057519407 11:118360965-118360965 11:118490250-118490250
19 KMT2A NM_001197104.1(KMT2A):c.6002_6005del (p.Phe2001fs) Deletion Pathogenic 375624 rs1057519408 11:118370055-118370058 11:118499340-118499343
20 KMT2A NM_005933.4(KMT2A):c.8140del (p.Ile2714fs) Deletion Pathogenic 430946 rs1131692268 11:118374752-118374752 11:118504037-118504037
21 KMT2A NM_001197104.1(KMT2A):c.3334+1G>A SNV Pathogenic 431178 rs1135401764 11:118347698-118347698 11:118476983-118476983
22 KMT2A NM_001197104.1(KMT2A):c.11071+1G>A SNV Pathogenic 446424 rs1555049702 11:118380834-118380834 11:118510119-118510119
23 KMT2A NM_001197104.1(KMT2A):c.3341C>A (p.Ser1114Ter) SNV Pathogenic 488383 rs1555038029 11:118348688-118348688 11:118477973-118477973
24 KMT2A NM_001197104.1(KMT2A):c.2896A>T (p.Arg966Ter) SNV Pathogenic 522659 rs1555036801 11:118344770-118344770 11:118474055-118474055
25 KMT2A NM_001197104.1(KMT2A):c.3521T>G (p.Leu1174Ter) SNV Pathogenic 522805 rs1555038111 11:118348868-118348868 11:118478153-118478153
26 KMT2A NM_005933.4(KMT2A):c.7429C>T (p.Arg2477Ter) SNV Pathogenic 449960 rs1555046568 11:118374045-118374045 11:118503330-118503330
27 KMT2A NM_005933.4(KMT2A):c.3566G>A (p.Cys1189Tyr) SNV Pathogenic 523095 rs1555038125 11:118348913-118348913 11:118478198-118478198
28 KMT2A NM_005933.4(KMT2A):c.4012+2T>A SNV Pathogenic 689770 rs1591385183 11:118352809-118352809 11:118482094-118482094
29 KMT2A NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) Deletion Pathogenic 694676 rs1591286581 11:118376982-118376982 11:118506267-118506267
30 KMT2A NM_005933.4(KMT2A):c.5612dup (p.Gln1872fs) Duplication Pathogenic 419205 rs1555043939 11:118367038-118367039 11:118496323-118496324
31 KMT2A NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) Duplication Pathogenic 802795 rs1555138552 11:118307393-118307394 11:118436678-118436679
32 KMT2A NM_001197104.2(KMT2A):c.502+1G>A SNV Pathogenic 802796 rs1591371152 11:118339560-118339560 11:118468845-118468845
33 KMT2A NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) SNV Pathogenic 802797 rs1591381084 11:118348802-118348802 11:118478087-118478087
34 KMT2A NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) SNV Pathogenic 802798 rs1591383060 11:118350911-118350911 11:118480196-118480196
35 KMT2A NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) Deletion Pathogenic 802799 rs1591384640 11:118352473-118352476 11:118481758-118481761
36 KMT2A NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) Deletion Pathogenic 802802 rs1591282224 11:118374250-118374250 11:118503535-118503535
37 KMT2A NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) Deletion Pathogenic 802803 rs1591282615 11:118374504-118374504 11:118503789-118503789
38 KMT2A NM_001197104.2(KMT2A):c.3157-7_3161del Deletion Pathogenic 807434 rs1591379711 11:118347510-118347521 11:118476795-118476806
39 KMT2A NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) Deletion Pathogenic 807622 rs1591374984 11:118343717-118343717 11:118473002-118473002
40 KMT2A NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) SNV Pathogenic 816873 rs1591373553 11:118342446-118342446 11:118471731-118471731
41 KMT2A NM_001197104.1(KMT2A):c.7567_7570del (p.Val2523fs) Deletion Pathogenic 191274 rs797044565 11:118374172-118374175 11:118503457-118503460
42 CHD7 NM_017780.4(CHD7):c.5243T>G (p.Leu1748Arg) SNV Pathogenic 981682 8:61761106-61761106 8:60848547-60848547
43 KMT2A NM_001197104.1(KMT2A):c.11110C>T (p.Arg3704Ter) SNV Pathogenic 523802 rs1555050211 11:118382704-118382704 11:118511989-118511989
44 KMT2A NM_005933.4(KMT2A):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 431895 rs1555038090 11:118348807-118348807 11:118478092-118478092
45 KMT2A NM_001197104.2(KMT2A):c.8404_8408GCTCA[2] (p.Ser2805fs) Microsatellite Pathogenic 816901 rs1591283372 11:118375010-118375014 11:118504295-118504299
46 KMT2A NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) Insertion Pathogenic 816900 rs1591373923 11:118342808-118342809 11:118472093-118472094
47 KMT2A NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) Deletion Pathogenic 691252 rs1591385663 11:118353156-118353156 11:118482441-118482441
48 KMT2A NM_005933.4(KMT2A):c.11022del (p.Ser3675fs) Deletion Pathogenic 562045 11:118380792-118380792 11:118510077-118510077
49 KMT2A NM_005933.4(KMT2A):c.8261dup (p.Ile2755fs) Duplication Pathogenic 562035 11:118374874-118374875 11:118504159-118504160
50 KMT2A NM_005933.4(KMT2A):c.1038del (p.Val347fs) Deletion Pathogenic 523096 rs1555035779 11:118342912-118342912 11:118472197-118472197

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 11.33 SMC3 SMC1A KMT2A CHD7
2 11.3 SMC3 SMC1A
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 nuclear matrix GO:0016363 9.26 SMC3 SMC1A
2 mitotic spindle pole GO:0097431 9.16 SMC3 SMC1A
3 cohesin complex GO:0008278 8.96 SMC3 SMC1A
4 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 chromatin organization GO:0006325 9.43 KMT2A CHD7 ARID1B
2 meiotic cell cycle GO:0051321 9.4 SMC3 SMC1A
3 chromatin remodeling GO:0006338 9.37 CHD7 ARID1B
4 stem cell population maintenance GO:0019827 9.32 SMC3 SMC1A
5 mitotic spindle assembly GO:0090307 9.16 SMC3 SMC1A
6 chromosome organization GO:0051276 8.96 SMC3 SMC1A
7 sister chromatid cohesion GO:0007062 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 chromatin binding GO:0003682 9.13 SMC3 SMC1A CHD7
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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