MCID: KLN006
MIFTS: 39

Koolen-De Vries Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Koolen-De Vries Syndrome

MalaCards integrated aliases for Koolen-De Vries Syndrome:

Name: Koolen-De Vries Syndrome 54 12 24 25 56 29 13
Kansl1-Related Intellectual Disability Syndrome 12 23 50 24 25
17q21.31 Microdeletion Syndrome 12 50 24 25 56
Koolen De Vries Syndrome 12 50 14
Monosomy 17q21.31 50 25 56
Kdvs 12 25 56
Chromosome 17q21.31 Microdeletion Syndrome 50 25
Microdeletion 17q21.31 Syndrome 50 25
17q21.31 Deletion Syndrome 50 25
Chromosome 17q21.31 Deletion Syndrome 69
Koolen-Devries Syndrome 24
Koolen Syndrome 25
Del(17)(q21.31) 56

Characteristics:

Orphanet epidemiological data:

56
koolen-de vries syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
17q21.31 microdeletion syndrome
Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
all cases are de novo
estimated prevalence of 1 in 16,000
contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism


HPO:

32
koolen-de vries syndrome:
Onset and clinical course variable expressivity
Inheritance contiguous gene syndrome autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is 100%: clinical features of kansl1-related intellectual disability syndrome are apparent in all individuals with the deletion or a kansl1 pathogenic variant, although the extent and severity of clinical findings vary among individuals...

Classifications:



Summaries for Koolen-De Vries Syndrome

NIH Rare Diseases : 50 koolen de vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. developmental delay is noted from an early age. other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. males with koolen de vries syndrome often have undescended testes (cryptorchidism). other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. it is caused by mutations in the kansl1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the kansl1 gene (chromosome 17 q21.31 microdeletion). inheritance is autosomal dominant. treatment may include physiotherapy, speech therapy, and educational programs, as well as medication for epilepsy and surgical treatment for malformations needing to be corrected. last updated: 3/3/2017

MalaCards based summary : Koolen-De Vries Syndrome, also known as kansl1-related intellectual disability syndrome, is related to koolen-de vries syndrome due to a point mutation and intellectual disability, and has symptoms including short stature, scoliosis and strabismus. An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1), and among its related pathways/superpathways is Chromatin organization. Affiliated tissues include heart, kidney and testes.

Disease Ontology : 12 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has physical basis in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.

Genetics Home Reference : 25 Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).

OMIM : 54
Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). (610443)

GeneReviews: NBK24676

Related Diseases for Koolen-De Vries Syndrome

Diseases in the Koolen-De Vries Syndrome family:

Koolen-De Vries Syndrome Due to a Point Mutation

Diseases related to Koolen-De Vries Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 koolen-de vries syndrome due to a point mutation 12.3
2 intellectual disability 10.2
3 polydactyly 9.9
4 n-acetylglutamate synthase deficiency 6.7 CRHR1 GATAD2B KANSL1 NAALADL2 PRDM9 SLC9A4

Symptoms & Phenotypes for Koolen-De Vries Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Weight:
failure to thrive
intrauterine growth retardation
low birth weight (27%)

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
pulmonary valve stenosis
bicuspid aortic valve
heart defects (27%)
more
Head And Neck- Ears:
overfolded helices
anteverted ears
large, prominent ears (59%)

Genitourinary- Kidneys:
hydronephrosis
duplex renal system

Skin Nails & Hair- Skin:
dry skin
eczema
sacral dimple
pigmentary abnormalities

Genitourinary- Bladder:
vesicoureteric reflux

Head And Neck- Face:
long face (74%)
high, broad forehead (68%)
broad chin (42%)

Head And Neck- Teeth:
small widely spaced teeth

Genitourinary:
kidney/urologic anomalies (32%)

Skeletal- Pelvis:
hip dislocation (27%)

Skeletal- Hands:
narrow hands (28%)
long, slender fingers (61%)
hypoplasia of the hand muscles (29%)

Skeletal- Feet:
positional foot deformity (27%)

Neurologic- Behavioral Psychiatric Manifestations:
friendly behavior (89%)

Head And Neck- Mouth:
cleft palate
everted lower lip
cleft lip
open mouth
high, narrow palate (50%)

Head And Neck- Nose:
high nasal bridge
tubular nose (82%)
pear-shaped nose (82%)
bulbous nasal tip (95%)

Chest- Breasts:
widely spaced nipples

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Central Nervous System:
mental retardation, mild to severe
poor speech development
developmental delay (100%)
hypotonia (96%)
seizures (50%)
more
Skeletal:
hypermobile joints

Head And Neck- Eyes:
hypermetropia (36%)
pale irides (45%)
strabismus (45%)
upward-slanted palpebral fissures (68%)
blepharophimosis (36%)
more
Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum (23%)

Skeletal- Spine:
scoliosis/kyphosis (36%)

Skeletal- Limbs:
slender lower limbs (41%)

Muscle Soft Tissue:
hypoplasia of the hand muscles (29%)

Skin Nails & Hair- Hair:
abnormal hair pigmentation (55%)
abnormal hair texture (55%)

Voice:
nasal speech (50%)


Clinical features from OMIM:

610443

Human phenotypes related to Koolen-De Vries Syndrome:

56 32 (show top 50) (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 frequent (33%) Occasional (29-5%) HP:0002650
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 bulbous nose 56 32 frequent (33%) Very frequent (99-80%) HP:0000414
5 ventriculomegaly 56 32 very rare (1%) Frequent (79-30%) HP:0002119
6 seizures 56 32 very rare (1%) Frequent (79-30%) HP:0001250
7 high forehead 56 32 frequent (33%) Very frequent (99-80%) HP:0000348
8 ptosis 56 32 frequent (33%) Very frequent (99-80%) HP:0000508
9 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
10 long face 56 32 very rare (1%) Very frequent (99-80%) HP:0000276
11 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
12 kyphosis 56 32 frequent (33%) Occasional (29-5%) HP:0002808
13 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
15 ureteral duplication 56 32 occasional (7.5%) Occasional (29-5%) HP:0000073
16 hip dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0002827
17 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
18 narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0000189
19 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
20 cryptorchidism 56 32 very rare (1%) Frequent (79-30%) HP:0000028
21 broad forehead 56 32 frequent (33%) Very frequent (99-80%) HP:0000337
22 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
23 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
24 poor speech 56 32 frequent (33%) Frequent (79-30%) HP:0002465
25 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
26 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
27 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
28 hypodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000668
29 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
30 dry skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000958
31 thick nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0009928
32 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
33 arachnodactyly 56 32 very rare (1%) Frequent (79-30%) HP:0001166
34 blepharophimosis 56 32 frequent (33%) Very frequent (99-80%) HP:0000581
35 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
36 epicanthus 56 32 frequent (33%) Very frequent (99-80%) HP:0000286
37 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
38 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
39 nasal speech 56 32 frequent (33%) Frequent (79-30%) HP:0001611
40 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
41 prominent nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000426
42 renal duplication 56 32 occasional (7.5%) Occasional (29-5%) HP:0000075
43 bicuspid aortic valve 56 32 occasional (7.5%) Occasional (29-5%) HP:0001647
44 pyloric stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002021
45 high, narrow palate 56 32 very rare (1%) Frequent (79-30%) HP:0002705
46 vertebral fusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0002948
47 everted lower lip vermilion 56 32 frequent (33%) Very frequent (99-80%) HP:0000232
48 overfolded helix 56 32 hallmark (90%) Very frequent (99-80%) HP:0000396
49 protruding ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0000411
50 underdeveloped nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000430

UMLS symptoms related to Koolen-De Vries Syndrome:


dry skin

Drugs & Therapeutics for Koolen-De Vries Syndrome

Search Clinical Trials , NIH Clinical Center for Koolen-De Vries Syndrome

Genetic Tests for Koolen-De Vries Syndrome

Genetic tests related to Koolen-De Vries Syndrome:

id Genetic test Affiliating Genes
1 Koolen-De Vries Syndrome 29
2 17q21.31 Microdeletion Syndrome 24
3 Kansl1-Related Intellectual Disability Syndrome 24 KANSL1

Anatomical Context for Koolen-De Vries Syndrome

MalaCards organs/tissues related to Koolen-De Vries Syndrome:

39
Heart, Kidney, Testes, Skin

Publications for Koolen-De Vries Syndrome

Articles related to Koolen-De Vries Syndrome:

id Title Authors Year
1
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. ( 28588437 )
2017
2
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. ( 28440867 )
2017
3
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. ( 27852077 )
2016
4
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. ( 26897099 )
2016
5
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. ( 26306646 )
2015

Variations for Koolen-De Vries Syndrome

ClinVar genetic disease variations for Koolen-De Vries Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KANSL1 NM_001193466.1(KANSL1): c.1816C> T (p.Arg606Ter) single nucleotide variant Pathogenic rs281865469 GRCh37 Chromosome 17, 44143935: 44143935
2 KANSL1 NM_001193466.1(KANSL1): c.2785_2786delAG (p.Arg929Glyfs) deletion Pathogenic rs281865471 GRCh37 Chromosome 17, 44110497: 44110498
3 KANSL1 NM_001193466.1(KANSL1): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs281865468 GRCh37 Chromosome 17, 44248594: 44248594
4 KANSL1 NM_001193466.1(KANSL1): c.1652+1G> A single nucleotide variant Pathogenic rs281865470 GRCh37 Chromosome 17, 44144914: 44144914
5 KANSL1 NM_001193466.1(KANSL1): c.1867_1870delATCC (p.Ile623Alafs) deletion Pathogenic rs281865472 GRCh37 Chromosome 17, 44128049: 44128052
6 KANSL1 NM_001193466.1(KANSL1): c.985_986delTT (p.Leu329Glufs) deletion Pathogenic rs281865473 GRCh37 Chromosome 17, 44248524: 44248525
7 17q21.31 Microdeletion deletion Pathogenic
8 KANSL1 NM_001193466.1(KANSL1): c.3125delT (p.Leu1042Argfs) deletion Likely pathogenic rs797045049 GRCh37 Chromosome 17, 44109035: 44109035
9 KANSL1 NM_001193466.1(KANSL1): c.985_995delTTGAGCAAACT (p.Leu329Alafs) deletion Likely pathogenic rs1057518659 GRCh37 Chromosome 17, 44248515: 44248525

Copy number variations for Koolen-De Vries Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112052 17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome
2 112054 17 37800000 41900000 Microdeletion CRHR1 17q21.31 microdeletion syndrome
3 112056 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome
4 112057 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome
5 112058 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome

Expression for Koolen-De Vries Syndrome

Search GEO for disease gene expression data for Koolen-De Vries Syndrome.

Pathways for Koolen-De Vries Syndrome

Pathways related to Koolen-De Vries Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 GATAD2B KANSL1 PRDM9

GO Terms for Koolen-De Vries Syndrome

Sources for Koolen-De Vries Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....