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

MCID: WTT002 MIFTS: 29	Witteveen-Kolk Syndrome 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 ⁵⁸ ³⁰ ⁶

Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation ⁶⁰

15q24 Microdeletion Syndrome ⁶⁰

Monosomy 15q24 ⁶⁰

Del(15)(q24) ⁶⁰

Witkos ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

witteveen-kolk syndrome:
Onset and clinical course phenotypic variability
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: ³⁵

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: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 613406

ICD10 via Orphanet ³⁵ Q93.5

UMLS via Orphanet ⁷⁵ C3697269

Orphanet ⁶⁰ ORPHA500166 ORPHA94065

MedGen ⁴³ C4310804

SNOMED-CT via HPO ⁷⁰ 103276001 111266001 128602000 more

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Summaries for Witteveen-Kolk Syndrome

MalaCards based summary : Witteveen-Kolk Syndrome, also known as sin3a-related intellectual disability syndrome due to a point mutation, is related to chromosome 15q24 deletion syndrome and diaphragmatic hernia, congenital. An important gene associated with Witteveen-Kolk Syndrome is SIN3A (SIN3 Transcription Regulator Family Member A). Affiliated tissues include eye, and related phenotypes are hypertelorism and intellectual disability

Description 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:

#	Related Disease	Score
1	chromosome 15q24 deletion syndrome	11.9
2	diaphragmatic hernia, congenital	10.1
3	autism	10.1

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Symptoms & Phenotypes for Witteveen-Kolk Syndrome

Human phenotypes related to Witteveen-Kolk Syndrome:

⁶⁰ ³³ (show top 50) (show all 111)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	global developmental delay ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001263
4	long philtrum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000343
5	thick lower lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000179
6	narrow mouth ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000160
7	scoliosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002650
8	hearing impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000365
9	macrotia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000400
10	wide nasal bridge ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000431
11	microcephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000252
12	smooth philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000319
13	short stature ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004322
14	immunodeficiency ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002721
15	thick nasal alae ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009928
16	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
17	joint hyperflexibility ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005692
18	intrauterine growth retardation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001511
19	hypogonadism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000135
20	prominent nasal bridge ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000426
21	hypospadias ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000047
22	narrow face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000275
23	downslanted palpebral fissures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000494
24	bilateral single transverse palmar creases ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007598
25	long face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000276
26	highly arched eyebrow ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002553
27	proximal placement of thumb ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009623
28	intestinal atresia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011100
29	high anterior hairline ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009890
30	cupped ear ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000378
31	sparse and thin eyebrow ³³	frequent (33%)		HP:0000535
32	high palate ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000218
33	nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000639
34	seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001250
35	inguinal hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000023
36	short nose ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003196
37	short palm ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004279
38	epicanthus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000286
39	toe clinodactyly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001863
40	attention deficit hyperactivity disorder ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007018
41	pes cavus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001761
42	underdeveloped nasal alae ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000430
43	microphthalmia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000568
44	deeply set eye ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000490
45	small hand ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0200055
46	sandal gap ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001852
47	nasal speech ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001611
48	hoarse voice ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001609
49	insomnia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100785
50	camptodactyly of finger ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100490

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly
high forehead

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
microphallus

Skeletal:
joint laxity

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
attention deficit

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

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

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

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 ³⁰

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Anatomical Context for Witteveen-Kolk Syndrome

MalaCards organs/tissues related to Witteveen-Kolk Syndrome:

⁴²

Eye

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Publications for Witteveen-Kolk Syndrome

Articles related to Witteveen-Kolk Syndrome:

(show all 11)

#	Title	Authors	Year
1	A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family. ( 28879703 )	Dai XY...Xie JS	2017
2	An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis. ( 26925314 )	Palaz?n-Bru A...Gil-Guill?n VF	2016
3	Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )	Samuelsson L....HafstrAPm M.	2015
4	Chromosome 15q24 microdeletion syndrome. ( 22216833 )	Magoulas P.L....El-Hattab A.W.	2012
5	Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )	Mefford H.C....Eichler E.E.	2012
6	A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. ( 20678247 )	McInnes L.A....Buxbaum J.D.	2010
7	Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )	Van Esch H....Fryns J.P.	2009
8	A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )	Klopocki E....Ullmann R.	2008
9	A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )	Kiholm Lund A.B....Kirchhoff M.	2008
10	Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )	Sharp A.J....Eichler E.E.	2007
11	15q24 Microdeletion Syndrome ( 22359776 )	Pagon R.A....Stephens K.	1993

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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	1293.59	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Role in the phenotype ⁶⁰ GeneCards inferred via : Variants (show sections)	27399968 22359776

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Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

⁶ (show all 15)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SIN3A	NM_001145357.1(SIN3A): c.803dup (p.Leu269Thrfs)	duplication	Pathogenic	rs879255618	GRCh37	Chromosome 15, 75704038: 75704038
2	SIN3A	NM_001145357.1(SIN3A): c.803dup (p.Leu269Thrfs)	duplication	Pathogenic	rs879255618	GRCh38	Chromosome 15, 75411697: 75411697
3	SIN3A	NM_001145357.1(SIN3A): c.1010_1013del (p.Lys337Serfs)	deletion	Pathogenic	rs879255619	GRCh38	Chromosome 15, 75410282: 75410285
4	SIN3A	NM_001145357.1(SIN3A): c.1010_1013del (p.Lys337Serfs)	deletion	Pathogenic	rs879255619	GRCh37	Chromosome 15, 75702623: 75702626
5	SIN3A	NM_001145357.1(SIN3A): c.1759delT (p.Ser587Profs)	deletion	Pathogenic	rs879255620	GRCh38	Chromosome 15, 75400135: 75400135
6	SIN3A	NM_001145357.1(SIN3A): c.1759delT (p.Ser587Profs)	deletion	Pathogenic	rs879255620	GRCh37	Chromosome 15, 75692476: 75692476
7	SIN3A	NM_001145357.1(SIN3A): c.2955_2956del (p.Glu985Aspfs)	deletion	Pathogenic	rs886037847	GRCh37	Chromosome 15, 75682058: 75682059
8	SIN3A	NM_001145357.1(SIN3A): c.2955_2956del (p.Glu985Aspfs)	deletion	Pathogenic	rs886037847	GRCh38	Chromosome 15, 75389717: 75389718
9	SIN3A	NM_001145357.1(SIN3A): c.3310C> T (p.Arg1104Ter)	single nucleotide variant	Pathogenic	rs879255621	GRCh38	Chromosome 15, 75380702: 75380702
10	SIN3A	NM_001145357.1(SIN3A): c.3310C> T (p.Arg1104Ter)	single nucleotide variant	Pathogenic	rs879255621	GRCh37	Chromosome 15, 75673043: 75673043
11	SIN3A	NM_001145357.1(SIN3A): c.3118_3119del (p.Gln1040Glufs)	deletion	Pathogenic	rs1135401768	GRCh38	Chromosome 15, 75384340: 75384341
12	SIN3A	NM_001145357.1(SIN3A): c.3118_3119del (p.Gln1040Glufs)	deletion	Pathogenic	rs1135401768	GRCh37	Chromosome 15, 75676681: 75676682
13	COMMD4; CSPG4; IMP3; MAN2C1; NEIL1; ODF3L1; PTPN9; SIN3A; SNUPN; SNX33	NC_000015.9: g.75600108_76063285dup	duplication	Uncertain significance		GRCh37	Chromosome 15, 75600108: 76063285
14	SIN3A	NM_001145357.1(SIN3A): c.848dup (p.His283Glnfs)	duplication	Pathogenic		GRCh37	Chromosome 15, 75703993: 75703993
15	SIN3A	NM_001145357.1(SIN3A): c.848dup (p.His283Glnfs)	duplication	Pathogenic		GRCh38	Chromosome 15, 75411652: 75411652

Copy number variations for Witteveen-Kolk Syndrome from CNVD:

⁷ (show all 17)

#	CNVD ID	Chromosom	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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Sources for Witteveen-Kolk Syndrome

¹ BioSystems

² BitterDB

³ CDC

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

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⁴³ MedGen

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⁴⁵ MeSH

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia