Witteveen-Kolk Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Witteveen-Kolk Syndrome

MalaCards integrated aliases for Witteveen-Kolk Syndrome:

IMPROVED

Name: Witteveen-Kolk Syndrome ⁵⁷ ⁵⁸ ⁷³ ⁷⁵

Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation ⁵⁸ ²⁸ ⁵

Witkos ⁵⁷ ⁵⁸ ⁷³

Sin3a-Related Intellectual Disability Syndrome ⁵⁸ ⁵

Characteristics:

Inheritance:

Witteveen-Kolk Syndrome: Autosomal dominant ⁵⁸ ⁵⁷

Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation: Autosomal dominant ⁵⁸

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Antenatal,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Miscellaneous:
variable phenotype
caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 (in some patients)

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 613406

MeSH ⁴³ D000015

Orphanet ⁵⁸ ORPHA500163 ORPHA500166

MedGen ⁴⁰ C4310804

SNOMED-CT via HPO ⁶⁹ 103276001 111266001 123983008 more

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Summaries for Witteveen-Kolk Syndrome

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria.

MalaCards based summary: Witteveen-Kolk Syndrome, also known as sin3a-related intellectual disability syndrome due to a point mutation, is related to alacrima, achalasia, and mental retardation syndrome and chromosome 15q24 deletion syndrome. An important gene associated with Witteveen-Kolk Syndrome is SIN3A (SIN3 Transcription Regulator Family Member A), and among its related pathways/superpathways are Assembly of the pre-replicative complex and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include brain and eye, and related phenotypes are abnormal facial shape and intellectual disability, mild

OMIM®: ⁵⁷ Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021). (613406) (Updated 24-Oct-2022)

Orphanet: ⁵⁸ A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.

Wikipedia: ⁷⁵ Witteveen-Kolk syndrome, also known as WITKOS and 15q24 microdeletion syndrome, is a rare... more...

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Related Diseases for Witteveen-Kolk Syndrome

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

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	alacrima, achalasia, and mental retardation syndrome	10.5
2	chromosome 15q24 deletion syndrome	10.4
3	attention deficit-hyperactivity disorder	10.2
4	down syndrome	10.2
5	glaucoma 3, primary congenital, a	10.2
6	megalocornea	10.2
7	brittle bone disorder	10.2
8	autism spectrum disorder	10.2
9	anterior segment dysgenesis	10.2
10	mucolipidosis	10.2
11	microcephaly	10.2
12	albinism	10.2
13	acute promyelocytic leukemia	9.5	SIN3B SIN3A

Graphical network of the top 20 diseases related to Witteveen-Kolk Syndrome:

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Symptoms & Phenotypes for Witteveen-Kolk Syndrome

Human phenotypes related to Witteveen-Kolk Syndrome:

⁵⁸ ³⁰ (show top 50) (show all 128)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal facial shape ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001999
2	intellectual disability, mild ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0001256
3	brain imaging abnormality ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0410263
4	hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000365
5	joint hypermobility ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001382
6	ventriculomegaly ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0002119
7	autistic behavior ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000729
8	decreased head circumference ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0040195
9	mild malformation of cortical development ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0032059
10	delayed skeletal maturation ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0002750
11	abnormality of the dentition ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000164
12	obsessive-compulsive behavior ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000722
13	fine hair ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0002213
14	short attention span ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000736
15	fragile nails ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0001808
16	clinodactyly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030084
17	dysplastic corpus callosum ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0006989
18	seizure ³⁰	Very rare (1%)		HP:0001250
19	frontal bossing ³⁰	Very rare (1%)		HP:0002007
20	constipation ³⁰	Very rare (1%)		HP:0002019
21	sleep apnea ³⁰	Very rare (1%)		HP:0010535
22	high palate ³⁰	Very rare (1%)		HP:0000218
23	cataract ³⁰	Very rare (1%)		HP:0000518
24	global developmental delay ³⁰	Very rare (1%)		HP:0001263
25	depressed nasal bridge ³⁰	Very rare (1%)		HP:0005280
26	type ii diabetes mellitus ³⁰	Very rare (1%)		HP:0005978
27	hypertelorism ³⁰	Very rare (1%)		HP:0000316
28	macrotia ³⁰	Very rare (1%)		HP:0000400
29	wide nasal bridge ³⁰	Very rare (1%)		HP:0000431
30	delayed speech and language development ³⁰	Very rare (1%)		HP:0000750
31	short nose ³⁰	Very rare (1%)		HP:0003196
32	microcephaly ³⁰	Very rare (1%)		HP:0000252
33	smooth philtrum ³⁰	Very rare (1%)		HP:0000319
34	sensorineural hearing impairment ³⁰	Very rare (1%)		HP:0000407
35	anteverted nares ³⁰	Very rare (1%)		HP:0000463
36	short stature ³⁰	Very rare (1%)		HP:0004322
37	gastroesophageal reflux ³⁰	Very rare (1%)		HP:0002020
38	fatigue ³⁰	Very rare (1%)		HP:0012378
39	intellectual disability, severe ³⁰	Very rare (1%)		HP:0010864
40	prominent forehead ³⁰	Very rare (1%)		HP:0011220
41	strabismus ³⁰	Very rare (1%)		HP:0000486
42	autism ³⁰	Very rare (1%)		HP:0000717
43	intrauterine growth retardation ³⁰	Very rare (1%)		HP:0001511
44	anxiety ³⁰	Very rare (1%)		HP:0000739
45	obesity ³⁰	Very rare (1%)		HP:0001513
46	epicanthus ³⁰	Very rare (1%)		HP:0000286
47	joint laxity ³⁰	Very rare (1%)		HP:0001388
48	downslanted palpebral fissures ³⁰	Very rare (1%)		HP:0000494
49	narrow mouth ³⁰	Very rare (1%)		HP:0000160
50	clinodactyly of the 5th finger ³⁰	Very rare (1%)		HP:0004209

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
microphthalmia, mild
more

Head And Neck Face:
smooth philtrum
facial asymmetry
long face
long philtrum
microretrognathia

Neurologic Central Nervous System:
intellectual disability, mild
hypotonia
thin corpus callosum
enlarged ventricles
mental retardation
more

Growth Other:
intrauterine growth retardation
poor postnatal growth

Head And Neck Mouth:
open mouth
small mouth
high arched palate
full lower lip

Skin Nails Hair Hair:
high anterior hairline
thin hair
broad medial eyebrows that taper laterally

Head And Neck Ears:
large ears
cupped ears

Chest Diaphragm:
diaphragmatic hernia (less common)

Muscle Soft Tissue:
loose connective tissue

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
high nasal bridge
flaring of nasal alae
wide, short nose

Head And Neck Head:
microcephaly
high forehead

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
microphallus

Skeletal:
joint laxity

Skeletal Hands:
brachydactyly
clinodactyly
hypoplastic thumbs
long, slender fingers
digital abnormalities, variable
more

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
attention deficit

Growth Weight:
low birth weight
obesity (less common)

Skeletal Feet:
abnormal insertion of the toes

Endocrine Features:
growth hormone deficiency (2 patients)
hypogonadotropic hypogonadism (1 patient)

Clinical features from OMIM®:

613406 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-1	9.32	SIN3B
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	9.32	SIN3A
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-150	9.32	SIN3A
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-156	9.32	SIN3B
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.32	SIN3A
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.32	SIN3B
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.32	SIN3B
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	9.32	SIN3A
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.32	SIN3A
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	9.32	SIN3B

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Drugs & Therapeutics for Witteveen-Kolk Syndrome

Search Clinical Trials, NIH Clinical Center for Witteveen-Kolk Syndrome

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Genetic Tests for Witteveen-Kolk Syndrome

Genetic tests related to Witteveen-Kolk Syndrome:

#	Genetic test	Affiliating Genes
1	Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation ²⁸	SIN3A

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Anatomical Context for Witteveen-Kolk Syndrome

Organs/tissues related to Witteveen-Kolk Syndrome:

MalaCards : Brain, Eye

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Publications for Witteveen-Kolk Syndrome

Articles related to Witteveen-Kolk Syndrome:

(show all 15)

#	Title	Authors	PMID	Year
1	Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. ⁶² ⁵⁷ ⁵	Narumi-Kishimoto Y...Hata K	30267900	2019
2	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. ⁵⁷ ⁵	Witteveen JS...Kolk SM	27399968	2016
3	Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. ⁶² ⁵⁷	Balasubramanian M...Kleefstra T	33437032	2021
4	Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. ⁵⁷	El-Hattab AW...Stankiewicz P	19557438	2009
5	Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ⁵⁷	Van Esch H...Fryns JP	19233321	2009
6	A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ⁵⁷	Kiholm Lund AB...Kirchhoff M	18755302	2008
7	Characterization of a recurrent 15q24 microdeletion syndrome. ⁵⁷	Sharp AJ...Eichler EE	17360722	2007
8	A report of three patients with an interstitial deletion of chromosome 15q24. ⁵⁷	Cushman LJ...Vance GH	16007617	2005
9	Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo) ⁵⁷	Bettelheim D...Bernaschek G	9650775	1998
10	Interstitial deletion of chromosome 15: two cases. ⁵⁷	Formiga LD...Pierson M	3198122	1988
11	Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. ⁶²	Penon-Portmann M...Slavotinek A	36158056	2022
12	Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome. ⁶²	Jacobson A...Bohnsack BL	35144002	2022
13	Witteveen-Kolk syndrome: The first patient from Turkey. ⁶²	Ercoskun P...Yuce Kahraman C	33142042	2021
14	Behavior and cognitive functioning in Witteveen-Kolk syndrome. ⁶²	van Dongen LCM...Egger JIM	32783353	2020
15	Three rare disease diagnoses in one patient through exome sequencing. ⁶²	Ferrer A...Gavrilova RH	31427378	2019

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Genes for Witteveen-Kolk Syndrome

Genes related to Witteveen-Kolk Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1393	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	27399968 30267900
2	SIN3B	SIN3 Transcription Regulator Family Member B	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	33811806

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Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

IMPROVED

⁵ (show all 37)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SIN3A	NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)	MICROSAT	Pathogenic	253073	rs886037847	GRCh37: 15:75682058-75682059 GRCh38: 15:75389717-75389718
2	SIN3A	NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)	DUP	Pathogenic	253070	rs879255618	GRCh37: 15:75704037-75704038 GRCh38: 15:75411696-75411697
3	SIN3A	NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)	SNV	Pathogenic	253074	rs879255621	GRCh37: 15:75673043-75673043 GRCh38: 15:75380702-75380702
4	SIN3A	NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)	DEL	Pathogenic	253072	rs879255620	GRCh37: 15:75692476-75692476 GRCh38: 15:75400135-75400135
5	SIN3A	NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)	MICROSAT	Pathogenic	431101	rs1135401768	GRCh37: 15:75676681-75676682 GRCh38: 15:75384340-75384341
6	SIN3A	NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)	DEL	Pathogenic	1031165	rs2073599549	GRCh37: 15:75702265-75702265 GRCh38: 15:75409924-75409924
7	SIN3A	NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)	SNV	Pathogenic	1065454		GRCh37: 15:75702621-75702621 GRCh38: 15:75410280-75410280
8	SIN3A	NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)	DUP	Pathogenic	1031167	rs2073271481	GRCh37: 15:75687038-75687039 GRCh38: 15:75394697-75394698
9	SIN3A	NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs)	DEL	Pathogenic	450723	rs1555443600	GRCh37: 15:75684624-75684625 GRCh38: 15:75392283-75392284
10	SIN3A	NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)	SNV	Pathogenic	1325072		GRCh37: 15:75684631-75684631 GRCh38: 15:75392290-75392290
11	SIN3A	NM_001145358.2(SIN3A):c.848dup (p.His283fs)	DUP	Pathogenic	560386	rs1567368243	GRCh37: 15:75703992-75703993 GRCh38: 15:75411651-75411652
12	SIN3A	NM_001145357.1(SIN3A):c.1010_1013del	DEL	Pathogenic	253071	rs879255619	GRCh37: 15:75702623-75702626 GRCh38: 15:75410282-75410285
13	SIN3A	NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	SNV	Pathogenic	1700222		GRCh37: 15:75715005-75715005 GRCh38: 15:75422664-75422664
14	SIN3A	NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs)	DUP	Likely Pathogenic	1683675		GRCh37: 15:75702232-75702233 GRCh38: 15:75409891-75409892
15	SIN3A	NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs)	MICROSAT	Likely Pathogenic	1333264		GRCh37: 15:75676753-75676754 GRCh38: 15:75384412-75384413
16	SIN3A	NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs)	DUP	Likely Pathogenic	1338870		GRCh37: 15:75668123-75668124 GRCh38: 15:75375782-75375783
17	SIN3A	NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)	DUP	Likely Pathogenic	1308659		GRCh37: 15:75682065-75682066 GRCh38: 15:75389724-75389725
18	SIN3A	NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)	SNV	Likely Pathogenic	1031166	rs2073302769	GRCh37: 15:75688687-75688687 GRCh38: 15:75396346-75396346
19	SIN3A	NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)	SNV	Likely Pathogenic	803108	rs1595897117	GRCh37: 15:75688686-75688686 GRCh38: 15:75396345-75396345
20	SIN3A	NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)	SNV	Likely Pathogenic	930683	rs1347764887	GRCh37: 15:75703975-75703975 GRCh38: 15:75411634-75411634
21	overlap with 10 genes		DUP	Uncertain Significance	560141		GRCh37: 15:75600108-76063285 GRCh38:
22	SIN3A	NM_001145358.2(SIN3A):c.1477G>C (p.Glu493Gln)	SNV	Uncertain Significance	1319297		GRCh37: 15:75694242-75694242 GRCh38: 15:75401901-75401901
23	SIN3A	NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)	SNV	Uncertain Significance	1031168	rs1180165033	GRCh37: 15:75704065-75704065 GRCh38: 15:75411724-75411724
24	SIN3A	NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser)	SNV	Uncertain Significance	1098647		GRCh37: 15:75702585-75702585 GRCh38: 15:75410244-75410244
25	SIN3A	NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe)	SNV	Uncertain Significance	1184396		GRCh37: 15:75715142-75715142 GRCh38: 15:75422801-75422801
26	SIN3A	NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile)	SNV	Uncertain Significance	1299295		GRCh37: 15:75664502-75664502 GRCh38: 15:75372161-75372161
27	SIN3A	NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)	SNV	Uncertain Significance	1342453		GRCh37: 15:75673007-75673007 GRCh38: 15:75380666-75380666
28	SIN3A	NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg)	SNV	Uncertain Significance	1342510		GRCh37: 15:75684949-75684949 GRCh38: 15:75392608-75392608
29	SIN3A	NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=)	SNV	Uncertain Significance	1342579		GRCh37: 15:75668006-75668006 GRCh38: 15:75375665-75375665
30	SIN3A	NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu)	SNV	Uncertain Significance	1319928		GRCh37: 15:75688629-75688629 GRCh38: 15:75396288-75396288
31	SIN3A	NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu)	SNV	Uncertain Significance	1328147		GRCh37: 15:75684592-75684592 GRCh38: 15:75392251-75392251
32	SIN3A	NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg)	SNV	Uncertain Significance	1213737		GRCh37: 15:75699430-75699430 GRCh38: 15:75407089-75407089
33	SIN3A	NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)	SNV	Uncertain Significance	1696625		GRCh37: 15:75664528-75664528 GRCh38: 15:75372187-75372187
34	SIN3A	NM_001145358.2(SIN3A):c.3359C>G (p.Ala1120Gly)	SNV	Uncertain Significance	1699067		GRCh37: 15:75672994-75672994 GRCh38: 15:75380653-75380653
35	SIN3A	NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)	SNV	Uncertain Significance	1701674		GRCh37: 15:75715068-75715068 GRCh38: 15:75422727-75422727
36	SIN3A	NM_001145358.2(SIN3A):c.3592-21T>A	SNV	Benign	1332968		GRCh37: 15:75664571-75664571 GRCh38: 15:75372230-75372230
37	SIN3A	NM_001145358.2(SIN3A):c.3592-20T>A	SNV	Benign	1274358		GRCh37: 15:75664570-75664570 GRCh38: 15:75372229-75372229

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Expression for Witteveen-Kolk Syndrome

Search GEO for disease gene expression data for Witteveen-Kolk Syndrome.

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Pathways for Witteveen-Kolk Syndrome

Pathways related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Assembly of the pre-replicative complex ⁶⁶ Show member pathways DNA Replication ⁶⁶ DNA Replication Pre-Initiation ⁶⁶ RUNX1 regulates transcription of genes involved in differentiation of HSCs ⁶⁶ Transcriptional regulation by RUNX1 ⁶⁶	12.43	SIN3B SIN3A
2	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	12.31	SIN3B SIN3A
3	KEAP1-NFE2L2 pathway ⁶⁶ Show member pathways Cellular response to chemical stress ⁶⁶ Cytoprotection by HMOX1 ⁶⁶ Nuclear events mediated by NFE2L2 ⁶⁶ Regulation of BACH1 activity ⁶⁶ Regulation of HMOX1 expression and activity ⁶⁶	12.11	SIN3B SIN3A
4	PPARA activates gene expression ⁶⁶ Show member pathways Regulation of lipid metabolism by PPARalpha ⁶⁶ Transcriptional regulation of white adipocyte differentiation ⁶⁶	11.94	SIN3B SIN3A
5	Signaling events mediated by HDAC Class I ⁶¹ Show member pathways Signaling events mediated by HDAC Class II ⁶¹ Transcription Sin3 and NuRD in transcription regulation ²²	11.67	SIN3B SIN3A
6	Regulation of nuclear SMAD2/3 signaling ⁶¹	11.19	SIN3B SIN3A
7	Transcription_P53 signaling pathway ²²	11.1	SIN3B SIN3A
8	Regulation of Telomerase ⁶¹	11.09	SIN3B SIN3A
9	Macrophage Differentiation and Growth Inhibition by METS ⁶⁴ Show member pathways DNA Methylation and Transcriptional Repression ⁶⁴	10.87	SIN3B SIN3A
10	Hedgehog signaling events mediated by Gli proteins ⁶¹	10.54	SIN3B SIN3A
11	Nur77 Signaling in T-Cell ⁶⁴	10.17	SIN3B SIN3A

Sources

GO Terms for Witteveen-Kolk Syndrome

Cellular components related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	histone deacetylase complex	GO:0000118	9.26	SIN3B SIN3A
2	Sin3 complex	GO:0016580	8.92	SIN3B SIN3A

Biological processes related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell migration	GO:0030336	9.26	SIN3B SIN3A
2	histone deacetylation	GO:0016575	8.92	SIN3A SIN3B

Molecular functions related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.26	SIN3B SIN3A
2	transcription corepressor activity	GO:0003714	8.92	SIN3A SIN3B

Sources

Sources for Witteveen-Kolk Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

WITKOS MCID: WTT002 MIFTS: 41	Witteveen-Kolk Syndrome (WITKOS) Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Witteveen-Kolk Syndrome (WITKOS)

Aliases & Classifications for Witteveen-Kolk Syndrome

MalaCards integrated aliases for Witteveen-Kolk Syndrome:

Characteristics:

Inheritance:

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Age Of Onset:

OMIM®:

Classifications:

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Summaries for Witteveen-Kolk Syndrome

Related Diseases for Witteveen-Kolk Syndrome

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

Graphical network of the top 20 diseases related to Witteveen-Kolk Syndrome:

Symptoms & Phenotypes for Witteveen-Kolk Syndrome

Human phenotypes related to Witteveen-Kolk Syndrome:

Symptoms via clinical synopsis from OMIM®:

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GenomeRNAi Phenotypes related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Witteveen-Kolk Syndrome

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Expression for Witteveen-Kolk Syndrome

Pathways for Witteveen-Kolk Syndrome

Pathways related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

GO Terms for Witteveen-Kolk Syndrome

Cellular components related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Witteveen-Kolk Syndrome according to GeneCards Suite gene sharing:

Sources for Witteveen-Kolk Syndrome