WITKOS
MCID: WTT002
MIFTS: 34

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 58 72 29 6
Witkos 57 58 72
Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation 58
Sin3a-Related Intellectual Disability Syndrome 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®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Witteveen-Kolk Syndrome

UniProtKB/Swiss-Prot : 72 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 alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with Witteveen-Kolk Syndrome is SIN3A (SIN3 Transcription Regulator Family Member A). Affiliated tissues include brain, eye and heart, and related phenotypes are abnormal facial shape and intellectual disability, mild

More information from OMIM: 613406

Related Diseases for Witteveen-Kolk Syndrome

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:

58 31 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
4 hearing impairment 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0000365
5 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
8 decreased head circumference 58 31 frequent (33%) Frequent (79-30%) HP:0040195
9 mild malformation of cortical development 58 31 frequent (33%) Frequent (79-30%) HP:0032059
10 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
11 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000164
12 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
13 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
14 fragile nails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001808
15 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
16 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0030084
17 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
18 seizure 31 occasional (7.5%) HP:0001250
19 intellectual disability 58 31 Frequent (79-30%) HP:0001249
20 scoliosis 58 31 Occasional (29-5%) HP:0002650
21 nystagmus 58 31 Occasional (29-5%) HP:0000639
22 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
23 depressed nasal bridge 58 31 Occasional (29-5%) HP:0005280
24 hypertelorism 58 31 Occasional (29-5%) HP:0000316
25 microcephaly 58 31 Occasional (29-5%) HP:0000252
26 smooth philtrum 58 31 Frequent (79-30%) HP:0000319
27 short stature 58 31 Frequent (79-30%) HP:0004322
28 thick lower lip vermilion 58 31 Occasional (29-5%) HP:0000179
29 strabismus 58 31 Occasional (29-5%) HP:0000486
30 cryptorchidism 58 31 Occasional (29-5%) HP:0000028
31 obesity 58 31 Occasional (29-5%) HP:0001513
32 epicanthus 58 31 Frequent (79-30%) HP:0000286
33 joint laxity 58 31 Frequent (79-30%) HP:0001388
34 downslanted palpebral fissures 58 31 Frequent (79-30%) HP:0000494
35 narrow mouth 58 31 Occasional (29-5%) HP:0000160
36 brachydactyly 58 31 Frequent (79-30%) HP:0001156
37 facial asymmetry 58 31 Occasional (29-5%) HP:0000324
38 long face 58 31 Occasional (29-5%) HP:0000276
39 long philtrum 58 31 Frequent (79-30%) HP:0000343
40 prominent nasal bridge 58 31 Occasional (29-5%) HP:0000426
41 hypospadias 58 31 Occasional (29-5%) HP:0000047
42 congenital diaphragmatic hernia 58 31 Occasional (29-5%) HP:0000776
43 high anterior hairline 58 31 Frequent (79-30%) HP:0009890
44 proximal placement of thumb 58 31 Occasional (29-5%) HP:0009623
45 recurrent infections 58 31 Frequent (79-30%) HP:0002719
46 small for gestational age 58 31 Frequent (79-30%) HP:0001518
47 abnormality of the outer ear 58 31 Frequent (79-30%) HP:0000356
48 microphallus 58 31 Occasional (29-5%) HP:0030260
49 seizures 58 Occasional (29-5%)
50 failure to thrive 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
microphthalmia, mild
more
Head And Neck Face:
smooth philtrum
facial asymmetry
long face
long philtrum
microretrognathia

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

Head And Neck Ears:
large ears
cupped ears

Chest Diaphragm:
diaphragmatic hernia (less common)

Muscle Soft Tissue:
loose connective tissue

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

Head And Neck Head:
microcephaly
high forehead

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
microphallus

Skeletal:
joint laxity

Skeletal Hands:
brachydactyly
clinodactyly
hypoplastic thumbs
long, slender fingers
digital abnormalities, variable
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
attention deficit

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 (Updated 05-Apr-2021)

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:

40
Brain, Eye, Heart

Publications for Witteveen-Kolk Syndrome

Articles related to Witteveen-Kolk Syndrome:

(show all 13)
# Title Authors PMID Year
1
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 57 6
27399968 2016
2
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 6 61
30267900 2019
3
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. 57
19557438 2009
4
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. 57
19233321 2009
5
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. 57
18755302 2008
6
Characterization of a recurrent 15q24 microdeletion syndrome. 57
17360722 2007
7
A report of three patients with an interstitial deletion of chromosome 15q24. 57
16007617 2005
8
Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo) 57
9650775 1998
9
Interstitial deletion of chromosome 15: two cases. 57
3198122 1988
10
Witteveen-Kolk syndrome: The first patient from Turkey. 61
33142042 2021
11
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. 61
33437032 2021
12
Behavior and cognitive functioning in Witteveen-Kolk syndrome. 61
32783353 2020
13
Three rare disease diagnoses in one patient through exome sequencing. 61
31427378 2019

Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIN3A NM_001145358.2(SIN3A):c.3114_3115CA[2] (p.Gln1040fs) Microsatellite Pathogenic 431101 rs1135401768 GRCh37: 15:75676681-75676682
GRCh38: 15:75384340-75384341
2 SIN3A NM_001145357.1(SIN3A):c.1010_1013del (p.Lys337Serfs) Deletion Pathogenic 253071 rs879255619 GRCh37: 15:75702623-75702626
GRCh38: 15:75410282-75410285
3 SIN3A NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) SNV Pathogenic 253074 rs879255621 GRCh37: 15:75673043-75673043
GRCh38: 15:75380702-75380702
4 SIN3A NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) Deletion Pathogenic 253072 rs879255620 GRCh37: 15:75692476-75692476
GRCh38: 15:75400135-75400135
5 SIN3A NM_001145358.2(SIN3A):c.1229del (p.Lys410fs) Deletion Pathogenic 1031165 GRCh37: 15:75702265-75702265
GRCh38: 15:75409924-75409924
6 SIN3A NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs) Duplication Pathogenic 1031167 GRCh37: 15:75687038-75687039
GRCh38: 15:75394697-75394698
7 SIN3A NM_001145358.2(SIN3A):c.848dup (p.His283fs) Duplication Pathogenic 560386 rs1567368243 GRCh37: 15:75703992-75703993
GRCh38: 15:75411651-75411652
8 SIN3A NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) Duplication Pathogenic 253070 rs879255618 GRCh37: 15:75704037-75704038
GRCh38: 15:75411696-75411697
9 SIN3A NM_001145358.2(SIN3A):c.2949_2950GA[3] (p.Glu985fs) Microsatellite Pathogenic 253073 rs886037847 GRCh37: 15:75682058-75682059
GRCh38: 15:75389717-75389718
10 SIN3A NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) SNV Likely pathogenic 1031166 GRCh37: 15:75688687-75688687
GRCh38: 15:75396346-75396346
11 SIN3A NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) SNV Likely pathogenic 803108 rs1595897117 GRCh37: 15:75688686-75688686
GRCh38: 15:75396345-75396345
12 SIN3A NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) SNV Likely pathogenic 930683 GRCh37: 15:75703975-75703975
GRCh38: 15:75411634-75411634
13 overlap with 10 genes Duplication Uncertain significance 560141 GRCh37: 15:75600108-76063285
GRCh38:
14 SIN3A NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) SNV Uncertain significance 1031168 GRCh37: 15:75704065-75704065
GRCh38: 15:75411724-75411724

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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