WITKOS
MCID: WTT002
MIFTS: 28

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 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:
Inheritance autosomal dominant inheritance sporadic


Classifications:



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

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 Top Affiliating Genes
1 chromosome 15q24 deletion syndrome 11.9
2 diaphragmatic hernia, congenital 10.1
3 autism 10.1

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

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 30 SIN3A

Anatomical Context for Witteveen-Kolk Syndrome

MalaCards organs/tissues related to Witteveen-Kolk Syndrome:

42
Eye

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 )
2017
2
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. ( 27399968 )
2016
3
An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis. ( 26925314 )
2016
4
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
2015
5
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
2012
6
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
2012
7
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. ( 20678247 )
2010
8
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
2009
9
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
2008
10
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
2008
11
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )
2007

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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