KOGS
MCID: KSK002
MIFTS: 33

Kosaki Overgrowth Syndrome (KOGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kosaki Overgrowth Syndrome

MalaCards integrated aliases for Kosaki Overgrowth Syndrome:

Name: Kosaki Overgrowth Syndrome 56 74 58 73 29 6 39
Skeletal Overgrowth with Facial Dysmorphism, Hyperelastic Skin, White Matter Lesions, and Neurologic Deterioration 56 73
Kogs 56 73
Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated japanese girls (last curated october 2015)


HPO:

31
kosaki overgrowth syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Kosaki Overgrowth Syndrome

OMIM : 56 Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015). (616592)

MalaCards based summary : Kosaki Overgrowth Syndrome, also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration, is related to overgrowth syndrome and scoliosis. An important gene associated with Kosaki Overgrowth Syndrome is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include skin, brain and bone, and related phenotypes are anxiety and prominent supraorbital ridges

UniProtKB/Swiss-Prot : 73 Kosaki overgrowth syndrome: A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging.

Wikipedia : 74 Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB... more...

Related Diseases for Kosaki Overgrowth Syndrome

Diseases related to Kosaki Overgrowth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 10.5
2 scoliosis 10.5
3 basal ganglia calcification 10.3
4 infantile myofibromatosis 10.3
5 myofibroma 10.3
6 premature aging 10.3
7 carpal tunnel syndrome 10.2
8 arachnoid cysts, intracranial 10.2
9 dandy-walker syndrome 10.2
10 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
11 hydrocephalus 10.2
12 ectropion 10.2
13 craniosynostosis 10.2
14 cellulitis 10.2
15 hypoglycemia 10.2
16 splenomegaly 10.2

Graphical network of the top 20 diseases related to Kosaki Overgrowth Syndrome:



Diseases related to Kosaki Overgrowth Syndrome

Symptoms & Phenotypes for Kosaki Overgrowth Syndrome

Human phenotypes related to Kosaki Overgrowth Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 anxiety 31 occasional (7.5%) HP:0000739
2 prominent supraorbital ridges 31 HP:0000336
3 wide nasal bridge 31 HP:0000431
4 prominent forehead 31 HP:0011220
5 ptosis 31 HP:0000508
6 depressivity 31 HP:0000716
7 downslanted palpebral fissures 31 HP:0000494
8 thin upper lip vermilion 31 HP:0000219
9 proptosis 31 HP:0000520
10 pointed chin 31 HP:0000307
11 hyperextensible skin 31 HP:0000974
12 progressive neurologic deterioration 31 HP:0002344
13 thin skin 31 HP:0000963
14 long foot 31 HP:0001833
15 fragile skin 31 HP:0001030
16 overgrowth 31 HP:0001548
17 thoracolumbar scoliosis 31 HP:0002944

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
wide nasal bridge

Head And Neck Eyes:
ptosis
proptosis
downslanting palpebral fissures

Neurologic Central Nervous System:
progressive neurologic deterioration
periventricular white matter lesions
worsening mental retardation (in 1 patient)

Skeletal:
overgrowth

Head And Neck Mouth:
thin upper lip

Skeletal Skull:
prominent supraorbital ridge
protrusion of posterior fossa

Skeletal Feet:
long feet

Muscle Soft Tissue:
myofibroma (in 1 patient)

Head And Neck Face:
prominent forehead
pointed chin
prominent supraorbital ridge

Growth Height:
tall stature

Skin Nails Hair Skin:
thin skin
fragile skin
hyperelastic skin

Skeletal Spine:
thoracolumbar scoliosis

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in 1 patient)
depression (in 1 patient)
schizophrenic symptoms (in 1 patient)

Skeletal Hands:
long hands

Skeletal Limbs:
long lower segment

Clinical features from OMIM:

616592

Drugs & Therapeutics for Kosaki Overgrowth Syndrome

Search Clinical Trials , NIH Clinical Center for Kosaki Overgrowth Syndrome

Genetic Tests for Kosaki Overgrowth Syndrome

Genetic tests related to Kosaki Overgrowth Syndrome:

# Genetic test Affiliating Genes
1 Kosaki Overgrowth Syndrome 29 PDGFRB

Anatomical Context for Kosaki Overgrowth Syndrome

MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:

40
Skin, Brain, Bone, Testes

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

(show all 37)
# Title Authors PMID Year
1
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. 56 6
25454926 2015
2
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. 56
21307714 2011
3
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. 61
32291752 2020
4
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. 61
32500973 2020
5
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. 61
31710779 2019
6
The patient results and satisfaction of knee arthroplasty in a validated grading system. 61
31515593 2019
7
Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. 61
31323115 2019
8
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 61
31004414 2019
9
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. 61
30941910 2019
10
The Knee Osteoarthritis Grading System for Arthroplasty. 61
30528787 2019
11
Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. 61
30031711 2018
12
Phenotype expansion and development in Kosaki overgrowth syndrome. 61
29226947 2018
13
An integrated metabolic consequence of Hepatospora eriocheir infection in the Chinese mitten crab Eriocheir sinensis. 61
29146449 2018
14
Expansion of the phenotype of Kosaki overgrowth syndrome. 61
28639748 2017
15
STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ. 61
28924035 2017
16
De Novo Transcriptome Analysis of Differential Functional Gene Expression in Largemouth Bass (Micropterus salmoides) after Challenge with Nocardia seriolae. 61
27529219 2016
17
Characterization and comparative profiling of the small RNA transcriptomes in two phases of flowering in Cymbidium ensifolium. 61
26289943 2015
18
Evaluation of BLAST-based edge-weighting metrics used for homology inference with the Markov Clustering algorithm. 61
26160651 2015
19
Genome-Wide Profiling of Histone Modifications (H3K9me2 and H4K12ac) and Gene Expression in Rust (Uromyces appendiculatus) Inoculated Common Bean (Phaseolus vulgaris L.). 61
26167691 2015
20
De novo transcriptomic analysis of peripheral blood lymphocytes from the Chinese goose: gene discovery and immune system pathway description. 61
25816068 2015
21
Development of Cymbidium ensifolium genic-SSR markers and their utility in genetic diversity and population structure analysis in cymbidiums. 61
25481640 2014
22
RNA-seq analysis of Quercus pubescens Leaves: de novo transcriptome assembly, annotation and functional markers development. 61
25393112 2014
23
Autonomic dysfunction in patients with orthostatic dizziness: validation of orthostatic grading scale and comparison of Valsalva maneuver and head-up tilt testing results. 61
23294495 2013
24
Insights into the loblolly pine genome: characterization of BAC and fosmid sequences. 61
24023741 2013
25
Deep sequencing-based analysis of the Cymbidium ensifolium floral transcriptome. 61
24392013 2013
26
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. 61
22096231 2012
27
Evolutionary plasticity determination by orthologous groups distribution. 61
21586164 2011
28
Cophenetic correlation analysis as a strategy to select phylogenetically informative proteins: an example from the fungal kingdom. 61
17688684 2007
29
Analysis of expressed sequence tags from the fungus Aspergillus oryzae cultured under different conditions. 61
17540709 2007
30
Phylogenomics reveal a robust fungal tree of life. 61
17156018 2006
31
An initial strategy for comparing proteins at the domain architecture level. 61
16837531 2006
32
Automatic clustering of orthologs and inparalogs shared by multiple proteomes. 61
16873526 2006
33
YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms. 61
16845020 2006
34
WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. 61
15608221 2005
35
A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes. 61
14759257 2004
36
Gene loss, protein sequence divergence, gene dispensability, expression level, and interactivity are correlated in eukaryotic evolution. 61
14525925 2003
37
The COG database: an updated version includes eukaryotes. 61
12969510 2003

Variations for Kosaki Overgrowth Syndrome

ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRB NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg)SNV Pathogenic 217122 rs863224946 5:149505064-149505064 5:150125501-150125501
2 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)SNV Uncertain significance 863633 5:149505049-149505049 5:150125486-150125486
3 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)SNV Uncertain significance 863739 5:149515439-149515439 5:150135876-150135876
4 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dupduplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
5 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)SNV Uncertain significance 581169 rs374802057 5:149511568-149511568 5:150132005-150132005
6 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
7 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
8 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>TSNV Uncertain significance 572749 rs571983343 5:149500576-149500576 5:150121013-150121013
9 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
10 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)SNV Uncertain significance 656806 5:149505038-149505038 5:150125475-150125475
11 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)SNV Uncertain significance 663275 5:149509449-149509449 5:150129886-150129886
12 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)SNV Uncertain significance 639829 5:149512503-149512503 5:150132940-150132940
13 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>TSNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
14 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)SNV Likely benign 540600 rs540480924 5:149509427-149509427 5:150129864-150129864
15 PDGFRB NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)SNV Likely benign 707454 5:149509395-149509395 5:150129832-150129832
16 PDGFRB NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)SNV Likely benign 772273 5:149509345-149509345 5:150129782-150129782
17 PDGFRB NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)SNV Likely benign 767315 5:149495443-149495443 5:150115880-150115880
18 PDGFRB NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)SNV Likely benign 707690 5:149514363-149514363 5:150134800-150134800
19 PDGFRB NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)SNV Likely benign 772270 5:149515219-149515219 5:150135656-150135656
20 PDGFRB NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)SNV Likely benign 783158 5:149497346-149497346 5:150117783-150117783
21 PDGFRB NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)SNV Likely benign 785900 5:149497399-149497399 5:150117836-150117836
22 PDGFRB NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)SNV Likely benign 712778 5:149497285-149497285 5:150117722-150117722
23 PDGFRB NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)SNV Likely benign 712779 5:149497321-149497321 5:150117758-150117758
24 PDGFRB NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)SNV Likely benign 712760 5:149499618-149499618 5:150120055-150120055
25 PDGFRB NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)SNV Likely benign 711863 5:149504384-149504384 5:150124821-150124821
26 PDGFRB NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)SNV Likely benign 733483 5:149497358-149497358 5:150117795-150117795
27 PDGFRB NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)SNV Likely benign 736581 5:149501549-149501549 5:150121986-150121986
28 PDGFRB NM_002609.4(PDGFRB):c.726G>C (p.Val242=)SNV Likely benign 735955 5:149513477-149513477 5:150133914-150133914
29 PDGFRB NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)SNV Benign/Likely benign 285888 rs41287112 5:149512494-149512494 5:150132931-150132931
30 PDGFRB NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)SNV Benign/Likely benign 286389 rs41287108 5:149500514-149500514 5:150120951-150120951
31 PDGFRB NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)SNV Benign/Likely benign 377063 rs2229558 5:149512407-149512407 5:150132844-150132844
32 PDGFRB NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)SNV Benign/Likely benign 707132 5:149495360-149495360 5:150115797-150115797
33 PDGFRB NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)SNV Benign 707246 5:149500535-149500535 5:150120972-150120972
34 PDGFRB NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)SNV Benign 473404 rs56072663 5:149504348-149504348 5:150124785-150124785
35 PDGFRB NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)SNV Benign 473403 rs148974733 5:149509394-149509394 5:150129831-150129831
36 PDGFRB NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)SNV Benign 473406 rs149417689 5:149497199-149497199 5:150117636-150117636
37 PDGFRB NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)SNV Benign 473400 rs2228439 5:149511636-149511636 5:150132073-150132073
38 PDGFRB NM_002609.4(PDGFRB):c.365-4G>TSNV Benign 473407 rs139448702 5:149514583-149514583 5:150135020-150135020
39 PDGFRB NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)SNV Benign 473405 rs148709288 5:149499657-149499657 5:150120094-150120094
40 PDGFRB NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)SNV Benign 473402 rs41287110 5:149509446-149509446 5:150129883-150129883
41 PDGFRB NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)SNV Benign 473401 rs74943037 5:149509508-149509508 5:150129945-150129945
42 PDGFRB NM_002609.4(PDGFRB):c.102C>T (p.Val34=)SNV Benign 473399 rs17708515 5:149515380-149515380 5:150135817-150135817
43 PDGFRB NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)SNV Benign 772148 5:149509360-149509360 5:150129797-150129797
44 PDGFRB NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)SNV Benign 774381 5:149509462-149509462 5:150129899-150129899
45 PDGFRB NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)SNV Benign 767332 5:149512321-149512321 5:150132758-150132758
46 PDGFRB NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)SNV Benign 772279 5:149512332-149512332 5:150132769-150132769
47 PDGFRB NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)SNV Benign 772768 5:149512495-149512495 5:150132932-150132932
48 PDGFRB NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)SNV Benign 770095 5:149513489-149513489 5:150133926-150133926
49 PDGFRB NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)SNV Benign 772509 5:149514354-149514354 5:150134791-150134791
50 PDGFRB NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)SNV Benign 707672 5:149509506-149509506 5:150129943-150129943

UniProtKB/Swiss-Prot genetic disease variations for Kosaki Overgrowth Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Pro584Arg VAR_075865 rs863224946

Expression for Kosaki Overgrowth Syndrome

Search GEO for disease gene expression data for Kosaki Overgrowth Syndrome.

Pathways for Kosaki Overgrowth Syndrome

GO Terms for Kosaki Overgrowth Syndrome

Sources for Kosaki Overgrowth Syndrome

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11 DGIdb
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19 FMA
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32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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50 NDF-RT
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56 OMIM
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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