MCID: WTT002
MIFTS: 29

Witteveen-Kolk Syndrome

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

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:
Onset and clinical course phenotypic variability
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 high palate

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

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

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

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 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
12 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
13 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
14 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
15 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
16 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
17 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
18 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
19 thick nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0009928
20 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
21 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
22 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
23 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
24 toe clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001863
25 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
26 growth delay 59 32 Frequent (79-30%) HP:0001510
27 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
28 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
29 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
30 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
31 underdeveloped nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000430
32 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
33 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
34 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
35 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
36 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
37 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
38 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
39 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
40 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
41 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
42 nasal speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001611
43 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
44 insomnia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100785
45 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
46 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
47 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
48 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
49 proximal placement of thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009623
50 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776

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
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
An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis. ( 26925314 )
2016
3
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
2015
4
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
2012
5
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
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 )
2010
7
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
2009
8
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
2008
9
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
2008
10
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )
2007
11
15q24 Microdeletion Syndrome ( 22359776 )
1993

Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIN3A NM_001145357.1(SIN3A): c.803dupC (p.Leu269Thrfs) duplication Pathogenic rs879255618 GRCh37 Chromosome 15, 75704038: 75704038
2 SIN3A NM_001145357.1(SIN3A): c.803dupC (p.Leu269Thrfs) duplication Pathogenic rs879255618 GRCh38 Chromosome 15, 75411697: 75411697
3 SIN3A NM_001145357.1(SIN3A): c.1010_1013delAAGA (p.Lys337Serfs) deletion Pathogenic rs879255619 GRCh38 Chromosome 15, 75410282: 75410285
4 SIN3A NM_001145357.1(SIN3A): c.1010_1013delAAGA (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_2956delGA (p.Glu985Aspfs) deletion Pathogenic rs886037847 GRCh37 Chromosome 15, 75682058: 75682059
8 SIN3A NM_001145357.1(SIN3A): c.2955_2956delGA (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_3119delCA (p.Gln1040Glufs) deletion Pathogenic rs1135401768 GRCh38 Chromosome 15, 75384340: 75384341
12 SIN3A NM_001145357.1(SIN3A): c.3118_3119delCA (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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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