WITKOS
MCID: WTT002
MIFTS: 30

Witteveen-Kolk Syndrome (WITKOS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Witteveen-Kolk Syndrome

MalaCards integrated aliases for Witteveen-Kolk Syndrome:

Name: Witteveen-Kolk Syndrome 57 74 29 6
Witkos 57 74
Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation 59
15q24 Microdeletion Syndrome 59
Monosomy 15q24 59
Del(15)(q24) 59

Characteristics:

Orphanet epidemiological data:

59
15q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
witteveen-kolk syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 57 613406
MeSH 44 D000015
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C3697269
MedGen 42 C4310804

Summaries for Witteveen-Kolk Syndrome

UniProtKB/Swiss-Prot : 74 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

Related Diseases for Witteveen-Kolk Syndrome

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 chromosome 15q24 deletion syndrome 12.0
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 hypertelorism 10.3
4 fryns syndrome 10.3
5 hypotonia 10.3
6 diaphragmatic hernia, congenital 10.3
7 hypospadias 10.3
8 microcephaly 10.3
9 noonan syndrome 1 10.1
10 prader-willi syndrome 10.1
11 chromosome 2q35 duplication syndrome 10.1
12 digeorge syndrome 10.1
13 anus, imperforate 10.1
14 autism 10.1
15 pseudovaginal perineoscrotal hypospadias 10.1
16 autism spectrum disorder 10.1
17 myelomeningocele 10.1
18 sensorineural hearing loss 10.1
19 intestinal atresia 10.1
20 infertility 10.1
21 congenital nystagmus 10.1
22 pathologic nystagmus 10.1
23 growth hormone deficiency 10.1
24 pseudo-turner syndrome 10.1
25 splenomegaly 10.1
26 mucopolysaccharidoses 10.1

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



Diseases related to Witteveen-Kolk Syndrome

Symptoms & Phenotypes for Witteveen-Kolk Syndrome

Human phenotypes related to Witteveen-Kolk Syndrome:

59 32 (show top 50) (show all 111)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
5 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
6 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
15 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
16 thick nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0009928
17 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
18 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
21 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
22 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
23 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
26 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
27 high anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0009890
28 proximal placement of thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009623
29 intestinal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0011100
30 cupped ear 59 32 frequent (33%) Frequent (79-30%) HP:0000378
31 sparse and thin eyebrow 32 frequent (33%) HP:0000535
32 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
33 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
34 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
35 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
36 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
37 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
38 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
39 toe clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001863
40 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
41 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
42 underdeveloped nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000430
43 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
44 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
45 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
46 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
47 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
48 nasal speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001611
49 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
50 insomnia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100785

Symptoms via clinical synopsis from OMIM:

57
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

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

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
microphallus

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

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

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

Growth Other:
intrauterine growth retardation
poor postnatal growth

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

Drugs & Therapeutics for Witteveen-Kolk Syndrome

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

Genetic Tests for Witteveen-Kolk Syndrome

Genetic tests related to Witteveen-Kolk Syndrome:

# Genetic test Affiliating Genes
1 Witteveen-Kolk Syndrome 29 SIN3A

Anatomical Context for Witteveen-Kolk Syndrome

MalaCards organs/tissues related to Witteveen-Kolk Syndrome:

41
Brain, Eye

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. 8 71
27399968 2016
2
15q24 Microdeletion Syndrome 71
22359776 2012
3
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. 8
19557438 2009
4
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. 8
19233321 2009
5
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. 8
18755302 2008
6
Characterization of a recurrent 15q24 microdeletion syndrome. 8
17360722 2007
7
A report of three patients with an interstitial deletion of chromosome 15q24. 8
16007617 2005
8
Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo) 8
9650775 1998
9
Interstitial deletion of chromosome 15: two cases. 8
3198122 1988
10
Three Rare Disease Diagnoses in One Patient through Exome Sequencing. 38
31427378 2019
11
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 38
30267900 2018

Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SIN3A NM_001145357.2(SIN3A): c.848dup (p.His283fs) duplication Pathogenic 15:75703993-75703993 15:75411652-75411652
2 SIN3A NM_001145357.2(SIN3A): c.1759del (p.Ser587fs) deletion Pathogenic rs879255620 15:75692476-75692476 15:75400135-75400135
3 SIN3A NM_001145357.2(SIN3A): c.803dup (p.Leu269fs) duplication Pathogenic rs879255618 15:75704038-75704038 15:75411697-75411697
4 SIN3A NM_001145357.1(SIN3A): c.1010_1013del (p.Lys337Serfs) deletion Pathogenic rs879255619 15:75702623-75702626 15:75410282-75410285
5 SIN3A NM_001145357.2(SIN3A): c.2949_2950GA[3] (p.Glu985fs) short repeat Pathogenic rs886037847 15:75682058-75682059 15:75389717-75389718
6 SIN3A NM_001145357.2(SIN3A): c.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic rs879255621 15:75673043-75673043 15:75380702-75380702
7 SIN3A NM_001145357.2(SIN3A): c.3114_3115CA[2] (p.Gln1040fs) short repeat Pathogenic rs1135401768 15:75676681-75676682 15:75384340-75384341
8 COMMD4 ; CSPG4 ; IMP3 ; MAN2C1 ; NEIL1 ; ODF3L1 ; PTPN9 ; SIN3A ; SNUPN ; SNX33 duplication Uncertain significance 15:75600108-76063285 :0-0

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

Expression for Witteveen-Kolk Syndrome

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

Pathways for Witteveen-Kolk Syndrome

GO Terms for Witteveen-Kolk Syndrome

Sources for Witteveen-Kolk Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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