KDVS
MCID: KLN006
MIFTS: 41

Koolen-De Vries Syndrome (KDVS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Koolen-De Vries Syndrome

MalaCards integrated aliases for Koolen-De Vries Syndrome:

Name: Koolen-De Vries Syndrome 57 12 25 59 37 29 13 6
17q21.31 Microdeletion Syndrome 12 76 53 25 59
Kansl1-Related Intellectual Disability Syndrome 12 24 53 25
Kdvs 57 12 25 59
Microdeletion 17q21.31 Syndrome 57 53 25
Koolen De Vries Syndrome 12 53 15
Monosomy 17q21.31 53 25 59
Chromosome 17q21.31 Microdeletion Syndrome 53 25
Chromosome 17q21.31 Deletion Syndrome 57 73
17q21.31 Deletion Syndrome 53 25
Syndrome, Koolen-De Vries 40
Koolen Syndrome 25
Del(17)(q21.31) 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

24
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 : 53 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.

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 dry skin An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1). Affiliated tissues include heart, kidney and testes, and related phenotypes are pectus excavatum and ptosis

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 material 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 : 57 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)

Wikipedia : 76 17q21.31 microdeletion syndrome, also known as Koolen�??de Vries syndrome (KdVS), is a rare genetic... 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 12.5
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 hypotonia 10.4
4 polydactyly 10.1
5 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
6 epilepsy 10.1

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:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism

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 Gastrointestinal:
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%)

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

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

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 Ribs Sternum 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:

59 32 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 ptosis 59 32 frequent (33%) Very frequent (99-80%) HP:0000508
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 scoliosis 59 32 frequent (33%) Occasional (29-5%) HP:0002650
8 kyphosis 59 32 frequent (33%) Occasional (29-5%) HP:0002808
9 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
10 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
11 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
14 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
15 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
16 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
17 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
18 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
19 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
20 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
21 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
22 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
23 epicanthus 59 32 frequent (33%) Very frequent (99-80%) HP:0000286
24 everted lower lip vermilion 59 32 frequent (33%) Very frequent (99-80%) HP:0000232
25 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
26 cryptorchidism 59 32 very rare (1%) Frequent (79-30%) HP:0000028
27 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
28 high, narrow palate 59 32 very rare (1%) Frequent (79-30%) HP:0002705
29 bicuspid aortic valve 59 32 occasional (7.5%) Occasional (29-5%) HP:0001647
30 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
31 ventriculomegaly 59 32 very rare (1%) Frequent (79-30%) HP:0002119
32 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
33 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
34 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
35 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
36 broad forehead 59 32 frequent (33%) Very frequent (99-80%) HP:0000337
37 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
38 arachnodactyly 59 32 very rare (1%) Frequent (79-30%) HP:0001166
39 upslanted palpebral fissure 59 32 frequent (33%) Very frequent (99-80%) HP:0000582
40 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
41 overfolded helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0000396
42 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
43 long face 59 32 very rare (1%) Very frequent (99-80%) HP:0000276
44 bulbous nose 59 32 frequent (33%) Very frequent (99-80%) HP:0000414
45 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
46 renal duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000075
47 high forehead 59 32 frequent (33%) Very frequent (99-80%) HP:0000348
48 blepharophimosis 59 32 frequent (33%) Very frequent (99-80%) HP:0000581
49 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
50 overfriendliness 59 32 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 29 KANSL1

Anatomical Context for Koolen-De Vries Syndrome

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

41
Heart, Kidney, Testes, Skin, Brain

Publications for Koolen-De Vries Syndrome

Articles related to Koolen-De Vries Syndrome:

(show all 11)
# Title Authors Year
1
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
2
Anaesthesia and orphan disease: a child with Koolen-de Vries syndrome. ( 30376488 )
2018
3
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. ( 28440867 )
2017
4
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. ( 28588437 )
2017
5
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. ( 27852077 )
2016
6
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. ( 26897099 )
2016
7
TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME. ( 30204964 )
2016
8
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. ( 26306646 )
2015
9
Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome. ( 25719359 )
2015
10
Monozygotic twins with 17q21.31 microdeletion syndrome. ( 24909117 )
2014
11
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. ( 22544363 )
2012

Variations for Koolen-De Vries Syndrome

ClinVar genetic disease variations for Koolen-De Vries Syndrome:

6 (show top 50) (show all 294)
# 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.1816C> T (p.Arg606Ter) single nucleotide variant Pathogenic rs281865469 GRCh38 Chromosome 17, 46066569: 46066569
3 KANSL1 NM_001193466.1(KANSL1): c.2785_2786delAG (p.Arg929Glyfs) deletion Pathogenic rs281865471 GRCh37 Chromosome 17, 44110497: 44110498
4 KANSL1 NM_001193466.1(KANSL1): c.2785_2786delAG (p.Arg929Glyfs) deletion Pathogenic rs281865471 GRCh38 Chromosome 17, 46033131: 46033132
5 KANSL1 NM_001193466.1(KANSL1): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs281865468 GRCh37 Chromosome 17, 44248594: 44248594
6 KANSL1 NM_001193466.1(KANSL1): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs281865468 GRCh38 Chromosome 17, 46171228: 46171228
7 KANSL1 NM_001193466.1(KANSL1): c.1652+1G> A single nucleotide variant Pathogenic rs281865470 GRCh37 Chromosome 17, 44144914: 44144914
8 KANSL1 NM_001193466.1(KANSL1): c.1652+1G> A single nucleotide variant Pathogenic rs281865470 GRCh38 Chromosome 17, 46067548: 46067548
9 KANSL1 NM_001193466.1(KANSL1): c.985_986delTT (p.Leu329Glufs) deletion Uncertain significance rs281865473 GRCh38 Chromosome 17, 46171158: 46171159
10 KANSL1 NM_001193466.1(KANSL1): c.985_986delTT (p.Leu329Glufs) deletion Uncertain significance rs281865473 GRCh37 Chromosome 17, 44248524: 44248525
11 KANSL1 NM_001193466.1(KANSL1): c.1867_1870delATCC (p.Ile623Alafs) deletion Pathogenic rs281865472 GRCh37 Chromosome 17, 44128049: 44128052
12 KANSL1 NM_001193466.1(KANSL1): c.1867_1870delATCC (p.Ile623Alafs) deletion Pathogenic rs281865472 GRCh38 Chromosome 17, 46050683: 46050686
13 KANSL1 NM_001193466.1(KANSL1): c.1938C> T (p.Pro646=) single nucleotide variant Benign rs371047711 GRCh37 Chromosome 17, 44127981: 44127981
14 KANSL1 NM_001193466.1(KANSL1): c.1938C> T (p.Pro646=) single nucleotide variant Benign rs371047711 GRCh38 Chromosome 17, 46050615: 46050615
15 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh37 Chromosome 17, 44117162: 44117162
16 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh38 Chromosome 17, 46039796: 46039796
17 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh37 Chromosome 17, 44115964: 44115964
18 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh38 Chromosome 17, 46038598: 46038598
19 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh37 Chromosome 17, 44111565: 44111565
20 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh38 Chromosome 17, 46034199: 46034199
21 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh37 Chromosome 17, 44110795: 44110795
22 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh38 Chromosome 17, 46033429: 46033429
23 KANSL1 NM_001193466.1(KANSL1): c.2949C> T (p.Tyr983=) single nucleotide variant Benign rs146848167 GRCh37 Chromosome 17, 44109554: 44109554
24 KANSL1 NM_001193466.1(KANSL1): c.2949C> T (p.Tyr983=) single nucleotide variant Benign rs146848167 GRCh38 Chromosome 17, 46032188: 46032188
25 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh37 Chromosome 17, 44248737: 44248737
26 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh38 Chromosome 17, 46171371: 46171371
27 KANSL1 NM_001193466.1(KANSL1): c.3170A> G (p.Gln1057Arg) single nucleotide variant Likely benign rs201083879 GRCh37 Chromosome 17, 44108990: 44108990
28 KANSL1 NM_001193466.1(KANSL1): c.3170A> G (p.Gln1057Arg) single nucleotide variant Likely benign rs201083879 GRCh38 Chromosome 17, 46031624: 46031624
29 KANSL1 NM_001193466.1(KANSL1): c.3056G> A (p.Arg1019His) single nucleotide variant Uncertain significance rs781056926 GRCh38 Chromosome 17, 46032081: 46032081
30 KANSL1 NM_001193466.1(KANSL1): c.3056G> A (p.Arg1019His) single nucleotide variant Uncertain significance rs781056926 GRCh37 Chromosome 17, 44109447: 44109447
31 KANSL1 NM_001193466.1(KANSL1): c.2725-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186818985 GRCh37 Chromosome 17, 44110565: 44110565
32 KANSL1 NM_001193466.1(KANSL1): c.2725-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186818985 GRCh38 Chromosome 17, 46033199: 46033199
33 KANSL1 NM_001193466.1(KANSL1): c.2718T> G (p.Asn906Lys) single nucleotide variant Likely benign rs139615350 GRCh38 Chromosome 17, 46033409: 46033409
34 KANSL1 NM_001193466.1(KANSL1): c.2718T> G (p.Asn906Lys) single nucleotide variant Likely benign rs139615350 GRCh37 Chromosome 17, 44110775: 44110775
35 KANSL1 NM_001193466.1(KANSL1): c.2713_2715delGAG (p.Glu905del) deletion Benign rs551968687 GRCh38 Chromosome 17, 46033412: 46033414
36 KANSL1 NM_001193466.1(KANSL1): c.2713_2715delGAG (p.Glu905del) deletion Benign rs551968687 GRCh37 Chromosome 17, 44110778: 44110780
37 KANSL1 NM_001193466.1(KANSL1): c.2414T> C (p.Met805Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201526313 GRCh37 Chromosome 17, 44116031: 44116031
38 KANSL1 NM_001193466.1(KANSL1): c.2414T> C (p.Met805Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201526313 GRCh38 Chromosome 17, 46038665: 46038665
39 KANSL1 NM_001193466.1(KANSL1): c.2331C> T (p.Pro777=) single nucleotide variant Benign/Likely benign rs139663254 GRCh38 Chromosome 17, 46039088: 46039088
40 KANSL1 NM_001193466.1(KANSL1): c.2331C> T (p.Pro777=) single nucleotide variant Benign/Likely benign rs139663254 GRCh37 Chromosome 17, 44116454: 44116454
41 KANSL1 NM_001193466.1(KANSL1): c.2159G> A (p.Arg720His) single nucleotide variant Benign/Likely benign rs148825937 GRCh37 Chromosome 17, 44117112: 44117112
42 KANSL1 NM_001193466.1(KANSL1): c.2159G> A (p.Arg720His) single nucleotide variant Benign/Likely benign rs148825937 GRCh38 Chromosome 17, 46039746: 46039746
43 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh37 Chromosome 17, 44128062: 44128062
44 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh38 Chromosome 17, 46050696: 46050696
45 KANSL1 NM_001193466.1(KANSL1): c.1625T> A (p.Leu542His) single nucleotide variant Conflicting interpretations of pathogenicity rs796052593 GRCh38 Chromosome 17, 46067576: 46067576
46 KANSL1 NM_001193466.1(KANSL1): c.1625T> A (p.Leu542His) single nucleotide variant Conflicting interpretations of pathogenicity rs796052593 GRCh37 Chromosome 17, 44144942: 44144942
47 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh37 Chromosome 17, 44171934: 44171934
48 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh38 Chromosome 17, 46094568: 46094568
49 KANSL1 NM_001193466.1(KANSL1): c.1285C> A (p.Pro429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142062936 GRCh37 Chromosome 17, 44248225: 44248225
50 KANSL1 NM_001193466.1(KANSL1): c.1285C> A (p.Pro429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142062936 GRCh38 Chromosome 17, 46170859: 46170859

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

GO Terms for Koolen-De Vries Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.8 CEP41 IFT27 WDPCP

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

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 8.96 IFT27 WDPCP
2 smoothened signaling pathway GO:0007224 8.62 IFT27 WDPCP

Sources for Koolen-De Vries 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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