Wiedemann-Steiner Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: WDM004 MIFTS: 42	Wiedemann-Steiner Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 605130

Orphanet ⁵⁹ ORPHA319182

ICD10 via Orphanet ³⁴ Q87.1

UMLS via Orphanet ⁷⁴ C1854630

MedGen ⁴² C1854630

MeSH ⁴⁴ D006983

KEGG ³⁷ H01879

SNOMED-CT via HPO ⁶⁹ 263681008 27272007 194021007 more

UMLS ⁷³ C1854630 C2931294

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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...

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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:

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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

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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

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Genetic Tests for Wiedemann-Steiner Syndrome

Genetic tests related to Wiedemann-Steiner Syndrome:

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

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Anatomical Context for Wiedemann-Steiner Syndrome

MalaCards organs/tissues related to Wiedemann-Steiner Syndrome:

⁴¹

Bone

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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 )	Baer S....Morin G.	2018
2	Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. ( 29203834 )	Lebrun N....Bienvenu T.	2018
3	Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. ( 28359930 )	Aggarwal A....Northrup H.	2017
4	Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. ( 27777327 )	Min Ko J....Cho T.J.	2017
5	Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ( 27759909 )	Sun Y....Yu Y.	2017
6	Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )	Enokizono T....Kosaki K.	2017
7	Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. ( 27320412 )	Stellacci E....Tartaglia M.	2016
8	Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. ( 25810209 )	Miyake N....Matsumoto N.	2015
9	A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )	Calvel P....Jaruzelska J.	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 )	Steel D....Kinali M.	2015
11	A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. ( 25929198 )	Dunkerton S....Goel H.	2015
12	Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). ( 24818805 )	Mendelsohn B.A....Slavotinek A.M.	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 )	Strom S.P....Quintero-Rivera F.	2014
14	De novo mutations in MLL cause Wiedemann-Steiner syndrome. ( 22795537 )	Jones W.D....Simpson M.A.	2012
15	Wiedemann-Steiner syndrome: three further cases. ( 20803650 )	Koenig R....MA1ller D.	2010

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Genes for Wiedemann-Steiner Syndrome

Genes related to Wiedemann-Steiner Syndrome (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KMT2A	Lysine Methyltransferase 2A	Protein Coding	1389.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	22795537 25810209
2	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	767.97	Pathogenic ⁶ Causative germline mutation ⁵⁹ GeneCards inferred via : Variants (show sections)
3	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	417.63	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	MOCS1	Molybdenum Cofactor Synthesis 1	Protein Coding	17.49	GeneCards inferred via : Publications (show sections)
5	LOC101929089	Uncharacterized LOC101929089	RNA Gene	7.63	GeneCards inferred via : Variants (show sections)

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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

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Expression for Wiedemann-Steiner Syndrome

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

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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	Cell cycle_Spindle assembly and chromosome separation ²²	11.3	SMC1A SMC3
2	Chromatin Regulation / Acetylation ⁴	11.21	KMT2A SMC1A SMC3
3	Retinoblastoma (RB) in Cancer ¹	11.2	SMC1A SMC3
4	ATM Pathway ⁶⁴ Show member pathways ATM Signaling Pathway ¹	11.1	SMC1A SMC3
5	Mitotic Telophase/Cytokinesis ⁶⁶ Show member pathways Cohesin Loading onto Chromatin ⁶⁶	10.37	SMC1A SMC3

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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

Sources for Wiedemann-Steiner Syndrome

¹ BioSystems

² BitterDB

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