MCID: WTT002
MIFTS: 29

Witteveen-Kolk Syndrome

Categories: Genetic diseases, Neuronal diseases, Fetal 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 11.8
2 diaphragmatic hernia, congenital 10.0
3 autism 10.0
4 autism spectrum disorder 10.0

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

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

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

Skeletal:
joint laxity

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 110)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 Very frequent (99-80%) HP:0000316
2 high palate 59 32 Occasional (29-5%) HP:0000218
3 nystagmus 59 32 Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 scoliosis 59 32 Frequent (79-30%) HP:0002650
7 inguinal hernia 59 32 Occasional (29-5%) HP:0000023
8 hearing impairment 59 32 Frequent (79-30%) HP:0000365
9 macrotia 59 32 Frequent (79-30%) HP:0000400
10 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
11 wide nasal bridge 59 32 Frequent (79-30%) HP:0000431
12 short nose 59 32 Occasional (29-5%) HP:0003196
13 microcephaly 59 32 Frequent (79-30%) HP:0000252
14 smooth philtrum 59 32 Frequent (79-30%) HP:0000319
15 short stature 59 32 Frequent (79-30%) HP:0004322
16 long philtrum 59 32 Very frequent (99-80%) HP:0000343
17 thick lower lip vermilion 59 32 Very frequent (99-80%) HP:0000179
18 strabismus 59 32 Frequent (79-30%) HP:0000486
19 short palm 59 32 Occasional (29-5%) HP:0004279
20 epicanthus 59 32 Occasional (29-5%) HP:0000286
21 attention deficit hyperactivity disorder 59 32 Occasional (29-5%) HP:0007018
22 growth delay 59 32 Frequent (79-30%) HP:0001510
23 intrauterine growth retardation 59 32 Frequent (79-30%) HP:0001511
24 prominent nasal bridge 59 32 Frequent (79-30%) HP:0000426
25 underdeveloped nasal alae 59 32 Occasional (29-5%) HP:0000430
26 microphthalmia 59 32 Occasional (29-5%) HP:0000568
27 hypospadias 59 32 Frequent (79-30%) HP:0000047
28 deeply set eye 59 32 Occasional (29-5%) HP:0000490
29 narrow face 59 32 Frequent (79-30%) HP:0000275
30 downslanted palpebral fissures 59 32 Frequent (79-30%) HP:0000494
31 narrow mouth 59 32 Very frequent (99-80%) HP:0000160
32 long face 59 32 Frequent (79-30%) HP:0000276
33 facial asymmetry 59 32 Occasional (29-5%) HP:0000324
34 toe syndactyly 59 32 Occasional (29-5%) HP:0001770
35 proximal placement of thumb 59 32 Frequent (79-30%) HP:0009623
36 congenital diaphragmatic hernia 59 32 Occasional (29-5%) HP:0000776
37 high anterior hairline 59 32 Frequent (79-30%) HP:0009890
38 cupped ear 59 32 Frequent (79-30%) HP:0000378
39 short thumb 59 32 Occasional (29-5%) HP:0009778
40 obesity 32 HP:0001513
41 clinodactyly 32 HP:0030084
42 muscular hypotonia 32 HP:0001252
43 sleep disturbance 32 HP:0002360
44 developmental regression 32 HP:0002376
45 widely spaced teeth 32 HP:0000687
46 depressed nasal bridge 32 HP:0005280
47 delayed speech and language development 32 HP:0000750
48 anteverted nares 32 HP:0000463
49 feeding difficulties in infancy 32 HP:0008872
50 intellectual disability, mild 32 HP:0001256

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:

# Title Authors Year
1
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
2015
2
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
2012
3
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
2012
4
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
5
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
2009
6
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
2008
7
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
2008
8
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )
2007
9
15q24 Microdeletion Syndrome ( 22359776 )
1993

Variations for Witteveen-Kolk Syndrome

ClinVar genetic disease variations for Witteveen-Kolk Syndrome:

6
(show all 12)
# 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

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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