MCID: KLN006
MIFTS: 38

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 53 12 24 55 28 13
17q21.31 Microdeletion Syndrome 12 72 49 24 55
Kansl1-Related Intellectual Disability Syndrome 12 23 49 24
Kdvs 53 12 24 55
Microdeletion 17q21.31 Syndrome 53 49 24
Koolen De Vries Syndrome 12 49 14
Monosomy 17q21.31 49 24 55
Chromosome 17q21.31 Microdeletion Syndrome 49 24
Chromosome 17q21.31 Deletion Syndrome 53 69
17q21.31 Deletion Syndrome 49 24
Koolen Syndrome 24
Del(17)(q21.31) 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
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 : 49 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 17q21.31 microdeletion syndrome, is related to koolen-de vries syndrome due to a point mutation and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures, dry skin and pectus excavatum. 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.

OMIM : 53 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)

Genetics Home Reference : 24 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).

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.

Wikipedia : 72 17q21.31 microdeletion syndrome (Koolen De Vries syndrome) is a rare genetic disorder caused by a... more...

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:

# Related Disease Score Top Affiliating Genes
1 koolen-de vries syndrome due to a point mutation 12.4
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 hypotonia 10.3
4 polydactyly 10.0
5 preaxial polydactyly of fingers 10.0

Graphical network of the top 20 diseases related to Koolen-De Vries Syndrome:



Diseases related to Koolen-De Vries Syndrome

Symptoms & Phenotypes for Koolen-De Vries Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
dry skin
eczema
sacral dimple
pigmentary abnormalities
ectodermal abnormalities (67%)

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
impulsivity
friendly behavior (89%) autistic features

Genitourinary Kidneys:
hydronephrosis
duplex renal system

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

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

Abdomen Gastroin testinal:
poor feeding

Skeletal:
hypermobile joints

Growth Weight:
low birth weight (27%)

Head And Neck Eyes:
hypermetropia (36%)
pale irides (45%)
strabismus (45%)
upward-slanted palpebral fissures (68%)
blepharophimosis (36%)
more
Respiratory Larynx:
tracheo/laryngomalacia

Skeletal Spine:
scoliosis/kyphosis (36%)

Skeletal Limbs:
slender lower limbs (41%)

Skeletal Feet:
positional foot deformity (27%)

Voice:
nasal speech (50%)

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
pulmonary valve stenosis
heart defects (40%)
more
Neurologic Central Nervous System:
heterotopia
hypoplastic corpus callosum
mental retardation, mild to severe
poor speech development
developmental delay (100%)
more
Chest RibsSternum Clavicles And Scapulae:
widely spaced nipples
pectus abnormalities (23%)

Genitourinary Bladder:
vesicoureteric reflux

Head And Neck Ears:
anteverted ears
overfolded helices
large, prominent ears (59%)

Growth Height:
short stature (35%)

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 (45%)

Skeletal Pelvis:
hip dislocation (27%)

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

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


Clinical features from OMIM:

610443

Human phenotypes related to Koolen-De Vries Syndrome:

55 31 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 very rare (1%) Frequent (79-30%) HP:0001250
2 dry skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000958
3 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
4 ptosis 55 31 frequent (33%) Very frequent (99-80%) HP:0000508
5 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 scoliosis 55 31 frequent (33%) Occasional (29-5%) HP:0002650
9 kyphosis 55 31 frequent (33%) Occasional (29-5%) HP:0002808
10 narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0000189
11 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
12 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
14 abnormality of the dentition 55 31 frequent (33%) Frequent (79-30%) HP:0000164
15 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
16 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
18 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
19 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
20 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
21 thick nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0009928
22 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
23 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
24 epicanthus 55 31 frequent (33%) Very frequent (99-80%) HP:0000286
25 everted lower lip vermilion 55 31 frequent (33%) Very frequent (99-80%) HP:0000232
26 microdontia 55 31 frequent (33%) Frequent (79-30%) HP:0000691
27 cryptorchidism 55 31 very rare (1%) Frequent (79-30%) HP:0000028
28 high, narrow palate 55 31 very rare (1%) Frequent (79-30%) HP:0002705
29 bicuspid aortic valve 55 31 occasional (7.5%) Occasional (29-5%) HP:0001647
30 protruding ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0000411
31 ventriculomegaly 55 31 very rare (1%) Frequent (79-30%) HP:0002119
32 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
33 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
34 hypopigmentation of hair 55 31 frequent (33%) Frequent (79-30%) HP:0005599
35 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
36 broad forehead 55 31 frequent (33%) Very frequent (99-80%) HP:0000337
37 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047
38 arachnodactyly 55 31 very rare (1%) Frequent (79-30%) HP:0001166
39 upslanted palpebral fissure 55 31 frequent (33%) Very frequent (99-80%) HP:0000582
40 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
41 overfolded helix 55 31 hallmark (90%) Very frequent (99-80%) HP:0000396
42 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
43 long face 55 31 very rare (1%) Very frequent (99-80%) HP:0000276
44 bulbous nose 55 31 frequent (33%) Very frequent (99-80%) HP:0000414
45 nasal speech 55 31 frequent (33%) Frequent (79-30%) HP:0001611
46 renal duplication 55 31 occasional (7.5%) Occasional (29-5%) HP:0000075
47 high forehead 55 31 frequent (33%) Very frequent (99-80%) HP:0000348
48 blepharophimosis 55 31 frequent (33%) Very frequent (99-80%) HP:0000581
49 hypodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000668
50 overfriendliness 55 31 hallmark (90%) Very frequent (99-80%) HP:0100025

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:

# Genetic test Affiliating Genes
1 Koolen-De Vries Syndrome 28 KANSL1

Anatomical Context for Koolen-De Vries Syndrome

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

38
Heart, Kidney, Testes, Skin, Brain

Publications for Koolen-De Vries Syndrome

Articles related to Koolen-De Vries Syndrome:

# Title Authors Year
1
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
2
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. ( 28440867 )
2017
3
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. ( 28588437 )
2017
4
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. ( 27852077 )
2016
5
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. ( 26897099 )
2016
6
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 (show all 12)
# 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 GRCh38 Chromosome 17, 46171149: 46171159
10 KANSL1 NM_001193466.1(KANSL1): c.2132dup (p.Met711Ilefs) duplication Pathogenic GRCh38 Chromosome 17, 46039773: 46039773
11 KANSL1 NM_001193466.1(KANSL1): c.808_809delCT (p.Leu270Valfs) deletion Pathogenic rs551541795 GRCh38 Chromosome 17, 46171335: 46171336
12 KANSL1 NM_001193466.1(KANSL1): c.572delG (p.Gly191Valfs) deletion Pathogenic GRCh37 Chromosome 17, 44248938: 44248938

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

7
# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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