KDVS
MCID: KLN006
MIFTS: 51

Koolen-De Vries Syndrome (KDVS)

Categories: Fetal diseases, Genetic diseases, Neuronal 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 43 58 72 36 29 13 6
Kdvs 57 12 25 43 58 72
17q21.31 Microdeletion Syndrome 12 73 20 43 58
Microdeletion 17q21.31 Syndrome 57 20 43 72
Kansl1-Related Intellectual Disability Syndrome 12 20 43
Chromosome 17q21.31 Deletion Syndrome 57 72 70
Koolen De Vries Syndrome 12 20 15
Monosomy 17q21.31 20 43 58
Chromosome 17q21.31 Microdeletion Syndrome 20 43
17q21.31 Deletion Syndrome 20 43
Syndrome, Koolen-De Vries 39
Koolen Syndrome 43
Del(17)(q21.31) 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation 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:
Inheritance autosomal dominant inheritance contiguous gene syndrome


GeneReviews:

25
Penetrance Penetrance is 100%: clinical features of kdvs are apparent in all individuals with a deletion of or a pathogenic variant in kansl1, although the extent and severity of clinical findings vary among individuals.

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050880
OMIM® 57 610443
OMIM Phenotypic Series 57 PS156200
KEGG 36 H02121
MeSH 44 D000015
ICD10 via Orphanet 33 Q87.8 Q93.5
UMLS via Orphanet 71 C1864871
MedGen 41 C1864871
SNOMED-CT via HPO 68 103276001 105985007 108367008 more
UMLS 70 C1864871

Summaries for Koolen-De Vries Syndrome

GARD : 20 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 kdvs, is related to koolen-de vries syndrome due to a point mutation and hypotonia, 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, testes and eye, and related phenotypes are intellectual disability 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.

MedlinePlus Genetics : 43 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).Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.

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) (Updated 20-May-2021)

KEGG : 36 Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital anomalies. The syndrome was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well.

UniProtKB/Swiss-Prot : 72 Koolen-De Vries syndrome: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies.

Wikipedia : 73 Koolen-De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, 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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 koolen-de vries syndrome due to a point mutation 11.4
2 hypotonia 10.6
3 alacrima, achalasia, and mental retardation syndrome 10.6
4 strabismus 10.4
5 mechanical strabismus 10.4
6 cryptorchidism, unilateral or bilateral 10.2
7 menkes disease 10.2
8 periventricular nodular heterotopia 10.2
9 apraxia 10.2
10 stuttering 10.2
11 scoliosis 10.2
12 ptosis 10.2
13 suppression amblyopia 10.2
14 amblyopia 10.2
15 ehlers-danlos syndrome 10.2
16 status epilepticus 10.2
17 neurofibromatosis 10.2
18 hypermobile ehlers-danlos syndrome 10.2
19 farsightedness 10.2
20 seizure disorder 10.2
21 angiocentric glioma 10.2
22 angelman syndrome 10.1
23 chiari malformation type i 10.1
24 coloboma of macula 10.1
25 otitis media 10.1
26 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
27 branchiootic syndrome 1 10.1
28 polydactyly 10.1
29 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
30 hydronephrosis 10.1
31 epilepsy 10.1
32 agnosia 10.1
33 situs inversus 10.1
34 learning disability 10.1
35 chiari malformation 10.1
36 chromosome 17q21.31 duplication syndrome 10.0 SPPL2C MAPT KANSL1 CRHR1
37 syndromic intellectual disability 9.9 MAPT KAT8 KANSL1
38 supranuclear palsy, progressive, 1 9.8 MAPT LRRC37A3 LRRC37A KANSL1 CRHR1

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

Human phenotypes related to Koolen-De Vries Syndrome:

58 31 (show top 50) (show all 178)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ptosis 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0000508
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
5 wide nasal bridge 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000431
6 delayed speech and language development 58 31 frequent (33%) Very frequent (99-80%) HP:0000750
7 thick nasal alae 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0009928
8 everted lower lip vermilion 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000232
9 epicanthus 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0000286
10 upslanted palpebral fissure 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0000582
11 overfolded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0000396
12 long face 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0000276
13 protruding ear 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000411
14 prominent nasal bridge 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000426
15 bulbous nose 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0000414
16 broad forehead 58 31 very rare (1%) Very frequent (99-80%) HP:0000337
17 high forehead 58 31 very rare (1%) Very frequent (99-80%) HP:0000348
18 blepharophimosis 58 31 very rare (1%) Very frequent (99-80%),Occasional (29-5%) HP:0000581
19 overfriendliness 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100025
20 underdeveloped nasal alae 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000430
21 pear-shaped nose 58 31 very rare (1%) Very frequent (99-80%) HP:0000447
22 hypotonia 31 hallmark (90%) HP:0001252
23 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
24 macrotia 58 31 very rare (1%) Frequent (79-30%) HP:0000400
25 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
26 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
27 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
28 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
29 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
30 strabismus 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000486
31 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
32 cryptorchidism 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000028
33 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
34 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
35 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
36 arachnodactyly 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001166
37 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
38 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
39 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
40 ventriculomegaly 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0002119
41 hip dislocation 58 31 very rare (1%) Frequent (79-30%) HP:0002827
42 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
43 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
44 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
45 hypospadias 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000047
46 nasal speech 58 31 very rare (1%) Frequent (79-30%) HP:0001611
47 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
48 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
49 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
50 small for gestational age 58 31 very rare (1%) Frequent (79-30%) HP:0001518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Genitourinary Kidneys:
hydronephrosis
duplex renal system

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

Neurologic Central Nervous System:
hypoplastic corpus callosum
heterotopia
mental retardation, mild to severe
poor speech development
developmental delay (100%)
more
Genitourinary Bladder:
vesicoureteric reflux

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
sacral dimple
eczema
pigmentary abnormalities
ectodermal abnormalities (67%)

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
pulmonary valve stenosis
heart defects (40%)
more
Head And Neck Ears:
anteverted ears
overfolded helices
large, prominent ears (59%)

Chest Ribs Sternum Clavicles And Scapulae:
widely spaced nipples
pectus abnormalities (23%)

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

Abdomen Gastrointestinal:
poor feeding

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 (Updated 20-May-2021)

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:

40
Heart, Testes, Eye, Pineal, Brain, Spinal Cord, Kidney

Publications for Koolen-De Vries Syndrome

Articles related to Koolen-De Vries Syndrome:

(show top 50) (show all 64)
# Title Authors PMID Year
1
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. 57 25 6 61
26306646 2016
2
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 25 57 6
22544367 2012
3
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 57 6 25
22544363 2012
4
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. 61 57 25
28440867 2017
5
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. 6 25
26424144 2015
6
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. 25 57
22482802 2012
7
A copy number variation morbidity map of developmental delay. 25 57
21841781 2011
8
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. 25 57
19447831 2009
9
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. 57 25
18628315 2008
10
Evolutionary toggling of the MAPT 17q21.31 inversion region. 57 25
19165922 2008
11
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. 57 25
16906162 2006
12
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. 57 25
16906163 2006
13
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. 57 25
16906164 2006
14
A common inversion under selection in Europeans. 25 57
15654335 2005
15
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. 61 6
28211987 2017
16
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. 61 25
29225339 2018
17
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. 25 61
28704368 2017
18
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. 20 61
26897099 2016
19
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
20
Structural haplotypes and recent evolution of the human 17q21.31 region. 57
22751096 2012
21
Structural diversity and African origin of the 17q21.31 inversion polymorphism. 57
22751100 2012
22
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
23
Recent segmental duplications in the human genome. 57
12169732 2002
24
Genome architecture, rearrangements and genomic disorders. 57
11818139 2002
25
Integration of cytogenetic landmarks into the draft sequence of the human genome. 57
11237021 2001
26
Interventions for childhood apraxia of speech. 25
29845607 2018
27
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. 25
27990716 2018
28
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. 25
26293599 2015
29
Autophagy reduces neuronal damage and promotes locomotor recovery via inhibition of apoptosis after spinal cord injury in rats. 25
23954967 2014
30
Histone post-translational modifications regulate autophagy flux and outcome. 25
23934085 2013
31
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. 25
22659270 2012
32
Neuronal stimulation induces autophagy in hippocampal neurons that is involved in AMPA receptor degradation after chemical long-term depression. 25
22836274 2012
33
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. 25
22293690 2012
34
Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH. 25
22037486 2012
35
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. 25
21397059 2011
36
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. 25
21094706 2011
37
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome. 25
21084979 2011
38
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. 25
19502243 2009
39
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. 25
17576104 2007
40
Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. 25
16543150 2006
41
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome. 61
33393407 2021
42
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry. 61
33314579 2021
43
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome. 61
33733630 2021
44
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. 61
33603161 2021
45
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. 61
33001864 2021
46
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. 61
33361104 2020
47
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1. 61
33050294 2020
48
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation. 61
32382029 2020
49
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
50
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion). 61
31250568 2019

Variations for Koolen-De Vries Syndrome

ClinVar genetic disease variations for Koolen-De Vries Syndrome:

6 (show top 50) (show all 350)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KANSL1 NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter) SNV Pathogenic 31693 rs281865469 GRCh37: 17:44143935-44143935
GRCh38: 17:46066569-46066569
2 KANSL1 NM_001193466.2(KANSL1):c.2783_2784AG[1] (p.Arg929fs) Microsatellite Pathogenic 31694 rs281865471 GRCh37: 17:44110497-44110498
GRCh38: 17:46033131-46033132
3 KANSL1 NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter) SNV Pathogenic 31695 rs281865468 GRCh37: 17:44248594-44248594
GRCh38: 17:46171228-46171228
4 KANSL1 NM_001193466.2(KANSL1):c.1652+1G>A SNV Pathogenic 31696 rs281865470 GRCh37: 17:44144914-44144914
GRCh38: 17:46067548-46067548
5 KANSL1 NM_001193466.2(KANSL1):c.1867_1870del (p.Ile623fs) Deletion Pathogenic 38929 rs281865472 GRCh37: 17:44128049-44128052
GRCh38: 17:46050683-46050686
6 KANSL1 NM_001193466.2(KANSL1):c.2132dup (p.Met711fs) Duplication Pathogenic 468402 rs1555734136 GRCh37: 17:44117138-44117139
GRCh38: 17:46039772-46039773
7 KANSL1 NM_001193466.2(KANSL1):c.572del (p.Gly191fs) Deletion Pathogenic 487349 rs1555575816 GRCh37: 17:44248938-44248938
GRCh38: 17:46171572-46171572
8 KANSL1 NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) SNV Pathogenic 421289 rs149830411 GRCh37: 17:44248642-44248642
GRCh38: 17:46171276-46171276
9 KANSL1 NM_001193466.2(KANSL1):c.878del (p.Asp293fs) Deletion Pathogenic 545439 rs1555575405 GRCh37: 17:44248632-44248632
GRCh38: 17:46171266-46171266
10 KANSL1 NM_001193466.2(KANSL1):c.1046del (p.Lys349fs) Deletion Pathogenic 571768 rs1567761585 GRCh37: 17:44248464-44248464
GRCh38: 17:46171098-46171098
11 KANSL1 NM_001193466.2(KANSL1):c.2938_2939del (p.Leu980fs) Deletion Pathogenic 620029 rs1568366050 GRCh37: 17:44109564-44109565
GRCh38: 17:46032198-46032199
12 KANSL1 NM_001193466.2(KANSL1):c.449del (p.Pro150fs) Deletion Pathogenic 620068 rs1567764119 GRCh37: 17:44249061-44249061
GRCh38: 17:46171695-46171695
13 KANSL1 NC_000017.11:g.(?_46031456)_(46082562_?)del Deletion Pathogenic 584056 GRCh37: 17:44108822-44159928
GRCh38: 17:46031456-46082562
14 KANSL1 NM_001193466.2(KANSL1):c.540del (p.Lys180fs) Deletion Pathogenic 689767 rs1597874008 GRCh37: 17:44248970-44248970
GRCh38: 17:46171604-46171604
15 KANSL1 NM_001193466.2(KANSL1):c.1042C>T (p.Arg348Ter) SNV Pathogenic 521688 rs1427624649 GRCh37: 17:44248468-44248468
GRCh38: 17:46171102-46171102
16 overlap with 5 genes GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1 copy number loss Pathogenic 666442 GRCh37: 17:43706886-44210822
GRCh38:
17 KANSL1 NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) Microsatellite Pathogenic 976379 GRCh37: 17:44110800-44110801
GRCh38: 17:46033434-46033435
18 KANSL1 NM_015443.4(KANSL1):c.2591del (p.Asn864fs) Deletion Pathogenic 976453 GRCh37: 17:44111602-44111602
GRCh38: 17:46034236-46034236
19 overlap with 5 genes Deletion Pathogenic 978035 GRCh37:
GRCh38: 17:46096853-46403941
20 KANSL1 NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) Duplication Pathogenic 981161 GRCh37: 17:44109453-44109454
GRCh38: 17:46032087-46032088
21 KANSL1 NM_015443.4(KANSL1):c.1849-4661_1895del Deletion Pathogenic 981466 GRCh37: 17:44128024-44132731
GRCh38: 17:46050658-46055365
22 KANSL1 NM_015443.4(KANSL1):c.2837+2T>C SNV Pathogenic 944681 GRCh37: 17:44110444-44110444
GRCh38: 17:46033078-46033078
23 KANSL1 NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) SNV Pathogenic 949673 GRCh37: 17:44109472-44109472
GRCh38: 17:46032106-46032106
24 KANSL1 NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) SNV Likely pathogenic 992993 GRCh37: 17:44109601-44109601
GRCh38: 17:46032235-46032235
25 KANSL1 NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) Indel Likely pathogenic 936637 GRCh37: 17:44143982-44143983
GRCh38: 17:46066616-46066617
26 KANSL1 NM_001193466.2(KANSL1):c.876del (p.Asp293fs) Deletion Likely pathogenic 666307 rs1597872089 GRCh37: 17:44248634-44248634
GRCh38: 17:46171268-46171268
27 KANSL1 NM_001193466.2(KANSL1):c.1463dup (p.Glu489fs) Duplication Likely pathogenic 547838 rs1555753569 GRCh37: 17:44159876-44159877
GRCh38: 17:46082510-46082511
28 KANSL1 NM_001193466.2(KANSL1):c.3125del (p.Leu1042fs) Deletion Likely pathogenic 209164 rs797045049 GRCh37: 17:44109035-44109035
GRCh38: 17:46031669-46031669
29 KANSL1 NM_001193466.2(KANSL1):c.985_995del (p.Leu329fs) Deletion Likely pathogenic 374269 rs1057518659 GRCh37: 17:44248515-44248525
GRCh38: 17:46171149-46171159
30 KANSL1 NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) SNV Conflicting interpretations of pathogenicity 379763 rs778178483 GRCh37: 17:44144915-44144915
GRCh38: 17:46067549-46067549
31 KANSL1 NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) SNV Conflicting interpretations of pathogenicity 376914 rs138698439 GRCh37: 17:44143925-44143925
GRCh38: 17:46066559-46066559
32 KANSL1 NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) Deletion Conflicting interpretations of pathogenicity 468412 rs551541795 GRCh37: 17:44248701-44248702
GRCh38: 17:46171335-46171336
33 KANSL1 NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) SNV Uncertain significance 323770 rs757031050 GRCh37: 17:44116004-44116004
GRCh38: 17:46038638-46038638
34 KANSL1 NM_001193466.2(KANSL1):c.1774C>T (p.Arg592Trp) SNV Uncertain significance 468399 rs774841964 GRCh37: 17:44143977-44143977
GRCh38: 17:46066611-46066611
35 KANSL1 NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) SNV Uncertain significance 205800 rs781056926 GRCh37: 17:44109447-44109447
GRCh38: 17:46032081-46032081
36 KANSL1 NM_001193466.2(KANSL1):c.3116C>T (p.Thr1039Ile) SNV Uncertain significance 468407 rs1444239074 GRCh37: 17:44109044-44109044
GRCh38: 17:46031678-46031678
37 KANSL1 NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) SNV Uncertain significance 536291 rs1555734253 GRCh37: 17:44117238-44117238
GRCh38: 17:46039872-46039872
38 KANSL1 NM_001193466.2(KANSL1):c.802T>C (p.Ser268Pro) SNV Uncertain significance 536292 rs767021119 GRCh37: 17:44248708-44248708
GRCh38: 17:46171342-46171342
39 KANSL1 NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) SNV Uncertain significance 536293 rs752029022 GRCh37: 17:44108888-44108888
GRCh38: 17:46031522-46031522
40 KANSL1 NM_001193466.2(KANSL1):c.2194A>G (p.Thr732Ala) SNV Uncertain significance 514141 rs1036089094 GRCh37: 17:44117077-44117077
GRCh38: 17:46039711-46039711
41 KANSL1 NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) SNV Uncertain significance 205813 rs200903841 GRCh37: 17:44248705-44248705
GRCh38: 17:46171339-46171339
42 KANSL1 NM_001193466.2(KANSL1):c.12G>A (p.Met4Ile) SNV Uncertain significance 392775 rs146472353 GRCh37: 17:44249498-44249498
GRCh38: 17:46172132-46172132
43 KANSL1 NM_001193466.2(KANSL1):c.2135C>T (p.Pro712Leu) SNV Uncertain significance 536294 rs549189483 GRCh37: 17:44117136-44117136
GRCh38: 17:46039770-46039770
44 KANSL1 NM_001193466.2(KANSL1):c.1157G>T (p.Ser386Ile) SNV Uncertain significance 536295 rs143589497 GRCh37: 17:44248353-44248353
GRCh38: 17:46170987-46170987
45 KANSL1 NM_001193466.2(KANSL1):c.1781G>C (p.Arg594Pro) SNV Uncertain significance 536296 rs1057520691 GRCh37: 17:44143970-44143970
GRCh38: 17:46066604-46066604
46 KANSL1 NM_001193466.2(KANSL1):c.551C>A (p.Thr184Asn) SNV Uncertain significance 536297 rs1366986871 GRCh37: 17:44248959-44248959
GRCh38: 17:46171593-46171593
47 KANSL1 NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) SNV Uncertain significance 380699 rs764291274 GRCh37: 17:44248233-44248233
GRCh38: 17:46170867-46170867
48 KANSL1 NM_001193466.2(KANSL1):c.2897C>T (p.Thr966Ile) SNV Uncertain significance 536298 rs763252158 GRCh37: 17:44109606-44109606
GRCh38: 17:46032240-46032240
49 KANSL1 NM_001193466.2(KANSL1):c.1402G>C (p.Asp468His) SNV Uncertain significance 536299 rs745576981 GRCh37: 17:44171955-44171955
GRCh38: 17:46094589-46094589
50 KANSL1 NM_001193466.2(KANSL1):c.1714C>T (p.His572Tyr) SNV Uncertain significance 536300 rs759587635 GRCh37: 17:44144037-44144037
GRCh38: 17:46066671-46066671

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

7
# CNVD ID Chromosome 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 MLL1 complex GO:0071339 9.16 KAT8 KANSL1
2 NSL complex GO:0044545 9.13 KANSL2 KANSL1L KANSL1
3 histone acetyltransferase complex GO:0000123 8.92 KAT8 KANSL2 KANSL1L KANSL1

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

# Name GO ID Score Top Affiliating Genes
1 histone H4-K16 acetylation GO:0043984 9.46 KAT8 KANSL2 KANSL1L KANSL1
2 histone H4-K8 acetylation GO:0043982 9.26 KAT8 KANSL2 KANSL1L KANSL1
3 histone H4-K5 acetylation GO:0043981 8.92 KAT8 KANSL2 KANSL1L KANSL1

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

# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase activity (H4-K16 specific) GO:0046972 9.46 KAT8 KANSL2 KANSL1L KANSL1
2 histone acetyltransferase binding GO:0035035 9.26 KANSL1L KANSL1
3 histone acetyltransferase activity (H4-K8 specific) GO:0043996 9.26 KAT8 KANSL2 KANSL1L KANSL1
4 histone acetyltransferase activity (H4-K5 specific) GO:0043995 8.92 KAT8 KANSL2 KANSL1L KANSL1

Sources for Koolen-De Vries Syndrome

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
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20 GARD
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29 GTR
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57 OMIM® (Updated 20-May-2021)
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