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

WITKOS MCID: WTT002 MIFTS: 33	Witteveen-Kolk Syndrome (WITKOS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Witteveen-Kolk Syndrome

MalaCards integrated aliases for Witteveen-Kolk Syndrome:

Name: Witteveen-Kolk Syndrome ⁵⁶ ⁷³ ²⁹ ⁶

Witkos ⁵⁶ ⁷³

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

15q24 Microdeletion Syndrome ⁵⁸

Monosomy 15q24 ⁵⁸

Del(15)(q24) ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

15q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

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

HPO:

³¹

witteveen-kolk syndrome:
Inheritance autosomal dominant inheritance sporadic

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 613406

MeSH ⁴³ D000015

ICD10 via Orphanet ³³ Q93.5

UMLS via Orphanet ⁷² C3697269

Orphanet ⁵⁸ ORPHA500166 ORPHA94065

MedGen ⁴¹ C4310804

SNOMED-CT via HPO ⁶⁸ 103276001 111266001 128602000 more

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Summaries for Witteveen-Kolk Syndrome

UniProtKB/Swiss-Prot : ⁷³ Witteveen-Kolk syndrome: 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 witkos, is related to chromosome 15q24 deletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Witteveen-Kolk Syndrome is SIN3A (SIN3 Transcription Regulator Family Member A). Affiliated tissues include brain and eye, and related phenotypes are hypertelorism and intellectual disability

More information from OMIM: 613406

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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 27)

#	Related Disease	Score
1	chromosome 15q24 deletion syndrome	12.4
2	alacrima, achalasia, and mental retardation syndrome	10.4
3	hypotonia	10.4
4	hypertelorism	10.3
5	fryns syndrome	10.3
6	microcephaly	10.3
7	diaphragmatic hernia, congenital	10.3
8	autism	10.3
9	autism spectrum disorder	10.3
10	hypospadias	10.3
11	attention deficit-hyperactivity disorder	10.1
12	noonan syndrome 1	10.1
13	prader-willi syndrome	10.1
14	chromosome 2q35 duplication syndrome	10.1
15	digeorge syndrome	10.1
16	anus, imperforate	10.1
17	scoliosis	10.1
18	myelomeningocele	10.1
19	sensorineural hearing loss	10.1
20	intestinal atresia	10.1
21	infertility	10.1
22	congenital nystagmus	10.1
23	pathologic nystagmus	10.1
24	growth hormone deficiency	10.1
25	pseudo-turner syndrome	10.1
26	splenomegaly	10.1
27	mucopolysaccharidoses	10.1

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 ³¹ (show top 50) (show all 111)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
4	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
5	thick lower lip vermilion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000179
6	narrow mouth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000160
7	scoliosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002650
8	hearing impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000365
9	macrotia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000400
10	wide nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000431
11	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
12	downslanted palpebral fissures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000494
13	intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001511
14	microcephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000252
15	smooth philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000319
16	immunodeficiency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002721
17	highly arched eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002553
18	thick nasal alae ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009928
19	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
20	joint hyperflexibility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005692
21	hypogonadism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000135
22	prominent nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000426
23	hypospadias ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000047
24	narrow face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000275
25	bilateral single transverse palmar creases ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007598
26	long face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000276
27	high anterior hairline ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009890
28	proximal placement of thumb ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009623
29	intestinal atresia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011100
30	cupped ear ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000378
31	sparse and thin eyebrow ³¹	frequent (33%)		HP:0000535
32	seizures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001250
33	nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
34	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
35	inguinal hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000023
36	short nose ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003196
37	underdeveloped nasal alae ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000430
38	short palm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004279
39	epicanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000286
40	toe clinodactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001863
41	attention deficit hyperactivity disorder ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007018
42	pes cavus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001761
43	microphthalmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000568
44	deeply set eye ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000490
45	small hand ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0200055
46	facial asymmetry ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000324
47	sandal gap ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001852
48	nasal speech ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001611
49	hoarse voice ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001609
50	insomnia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100785

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Skeletal Spine:
scoliosis

Growth Height:
short stature

Growth Other:
intrauterine growth retardation
poor postnatal growth

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

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

Skeletal:
joint laxity

Head And Neck Ears:
large ears
cupped ears

Chest Diaphragm:
diaphragmatic hernia (less common)

Muscle Soft Tissue:
loose connective tissue

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

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

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
microphallus

Head And Neck Head:
microcephaly
high forehead

Neurologic Central Nervous System:
intellectual disability, mild
hypotonia
enlarged ventricles
mental retardation
seizures (rare)
more

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
attention deficit

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

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

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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	Witteveen-Kolk Syndrome ²⁹	SIN3A

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Anatomical Context for Witteveen-Kolk Syndrome

MalaCards organs/tissues related to Witteveen-Kolk Syndrome:

⁴⁰

Brain, Eye

Sources

Publications for Witteveen-Kolk Syndrome

Articles related to Witteveen-Kolk Syndrome:

(show all 11)

#	Title	Authors	PMID	Year
1	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. ⁵⁶ ⁶	Witteveen JS...Kolk SM	27399968	2016
2	15q24 Microdeletion Syndrome ⁶	Mefford H...Rosenfeld J	22359776	2012
3	Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. ⁵⁶	El-Hattab AW...Stankiewicz P	19557438	2009
4	Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ⁵⁶	Van Esch H...Fryns JP	19233321	2009
5	A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ⁵⁶	Kiholm Lund AB...Kirchhoff M	18755302	2008
6	Characterization of a recurrent 15q24 microdeletion syndrome. ⁵⁶	Sharp AJ...Eichler EE	17360722	2007
7	A report of three patients with an interstitial deletion of chromosome 15q24. ⁵⁶	Cushman LJ...Vance GH	16007617	2005
8	Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo) ⁵⁶	Bettelheim D...Bernaschek G	9650775	1998
9	Interstitial deletion of chromosome 15: two cases. ⁵⁶	Formiga LD...Pierson M	3198122	1988
10	Three rare disease diagnoses in one patient through exome sequencing. ⁶¹	Ferrer A...Gavrilova RH	31427378	2019
11	Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. ⁶¹	Narumi-Kishimoto Y...Hata K	30267900	2019

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Genes for Witteveen-Kolk Syndrome

Genes related to Witteveen-Kolk Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1403.14	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Role in the phenotype ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)	22359776 27399968

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Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SIN3A	NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)	duplication	Pathogenic	253070	rs879255618	15:75704037-75704038	15:75411696-75411697
2	SIN3A	NM_001145357.1(SIN3A):c.1010_1013del (p.Lys337Serfs)	deletion	Pathogenic	253071	rs879255619	15:75702623-75702626	15:75410282-75410285
3	SIN3A	NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)	deletion	Pathogenic	253072	rs879255620	15:75692476-75692476	15:75400135-75400135
4	SIN3A	NM_001145358.2(SIN3A):c.2949_2950GA[3] (p.Glu985fs)	short repeat	Pathogenic	253073	rs886037847	15:75682058-75682059	15:75389717-75389718
5	SIN3A	NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)	SNV	Pathogenic	253074	rs879255621	15:75673043-75673043	15:75380702-75380702
6	SIN3A	NM_001145358.2(SIN3A):c.3114_3115CA[2] (p.Gln1040fs)	short repeat	Pathogenic	431101	rs1135401768	15:75676681-75676682	15:75384340-75384341
7	SIN3A	NM_001145358.2(SIN3A):c.848dup (p.His283fs)	duplication	Pathogenic	560386	rs1567368243	15:75703992-75703993	15:75411651-75411652
8	SIN3A	NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)	SNV	Likely pathogenic	803108		15:75688686-75688686	15:75396345-75396345
9	COMMD4 , CSPG4 , IMP3 , MAN2C1 , NEIL1 , ODF3L1 , PTPN9 , SIN3A , SNUPN , SNX33		duplication	Uncertain significance	560141		15:75600108-76063285

Copy number variations for Witteveen-Kolk Syndrome from CNVD:

⁷ (show all 17)

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	94771	15	70400000	76100000	Microdeletion		15q24 microdeletion syndrome
2	94772	15	70400000	76100000	Microdeletion		15q24 microdeletion syndrome
3	94773	15	70400000	76100000	Microdeletion		15q24 microdeletion syndrome
4	94776	15	70400000	76100000	Microdeletion	ARID3B	15q24 microdeletion syndrome
5	94777	15	70400000	76100000	Microdeletion	COMMD4	15q24 microdeletion syndrome
6	94778	15	70400000	76100000	Microdeletion	CPLX3	15q24 microdeletion syndrome
7	94779	15	70400000	76100000	Microdeletion	CSK	15q24 microdeletion syndrome
8	94780	15	70400000	76100000	Microdeletion	CYP11A1	15q24 microdeletion syndrome
9	94781	15	70400000	76100000	Microdeletion	CYP1A1	15q24 microdeletion syndrome
10	94782	15	70400000	76100000	Microdeletion	MAN2C1	15q24 microdeletion syndrome
11	94783	15	70400000	76100000	Microdeletion	NEIL1	15q24 microdeletion syndrome
12	94784	15	70400000	76100000	Microdeletion	PTPN9	15q24 microdeletion syndrome
13	94785	15	70400000	76100000	Microdeletion	SEMA7A	15q24 microdeletion syndrome
14	94786	15	70400000	76100000	Microdeletion	SEMA7A	15q24 microdeletion syndrome
15	94787	15	70400000	76100000	Microdeletion	SIN3A	15q24 microdeletion syndrome
16	94788	15	70400000	76100000	Microdeletion	SIN3A	15q24 microdeletion syndrome
17	94789	15	70400000	76100000	Microdeletion	STRA6	15q24 microdeletion syndrome

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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

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GO Terms for Witteveen-Kolk Syndrome

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Witteveen-Kolk Syndrome (WITKOS)

Aliases & Classifications for Witteveen-Kolk Syndrome

MalaCards integrated aliases for Witteveen-Kolk Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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:

Clinical features from OMIM:

Drugs & Therapeutics for Witteveen-Kolk Syndrome

Genetic Tests for Witteveen-Kolk Syndrome

Genetic tests related to Witteveen-Kolk Syndrome:

Anatomical Context for Witteveen-Kolk Syndrome

MalaCards organs/tissues related to Witteveen-Kolk Syndrome:

Publications for Witteveen-Kolk Syndrome

Articles related to Witteveen-Kolk Syndrome:

Genes for Witteveen-Kolk Syndrome

Genes related to Witteveen-Kolk Syndrome (1 elite genes):

Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

Copy number variations for Witteveen-Kolk Syndrome from CNVD:

Expression for Witteveen-Kolk Syndrome

Pathways for Witteveen-Kolk Syndrome

GO Terms for Witteveen-Kolk Syndrome

Sources for Witteveen-Kolk Syndrome