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KOGS
MCID: KSK002
MIFTS: 32

Kosaki Overgrowth Syndrome (KOGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Kosaki Overgrowth Syndrome

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MalaCards integrated aliases for Kosaki Overgrowth Syndrome:

Name: Kosaki Overgrowth Syndrome 57 74 58 73 29 6 39
Skeletal Overgrowth with Facial Dysmorphism, Hyperelastic Skin, White Matter Lesions, and Neurologic Deterioration 57 73
Kogs 57 73
Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Kosaki Overgrowth Syndrome

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OMIM® : 57 Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad 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) (Updated 05-Mar-2021)

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, and related phenotypes are anxiety and ptosis

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...

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Related Diseases for Kosaki Overgrowth Syndrome

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 10.5
2 scoliosis 10.4
3 carpal tunnel syndrome 10.2
4 basal ganglia calcification 10.2
5 infantile myofibromatosis 10.2
6 myofibroma 10.2
7 premature aging 10.2
8 arachnoid cysts, intracranial 10.1
9 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
10 mucopolysaccharidosis-plus syndrome 10.1
11 loeys-dietz syndrome 10.1
12 hydrocephalus 10.1
13 ehlers-danlos syndrome 10.1
14 ectropion 10.1
15 craniosynostosis 10.1
16 cellulitis 10.1
17 hypoglycemia 10.1
18 splenomegaly 10.1
19 aneurysm 10.1
20 cerebral aneurysms 10.1

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



Diseases related to Kosaki Overgrowth Syndrome
Sources

Symptoms & Phenotypes for Kosaki Overgrowth Syndrome

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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 ptosis 31 HP:0000508
3 depressivity 31 HP:0000716
4 prominent supraorbital ridges 31 HP:0000336
5 wide nasal bridge 31 HP:0000431
6 prominent forehead 31 HP:0011220
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 fragile skin 31 HP:0001030
15 long foot 31 HP:0001833
16 overgrowth 31 HP:0001548
17 thoracolumbar scoliosis 31 HP:0002944

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
proptosis
downslanting palpebral fissures

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

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 Nose:
wide nasal bridge

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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Kosaki Overgrowth Syndrome

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Search Clinical Trials , NIH Clinical Center for Kosaki Overgrowth Syndrome

Sources

Genetic Tests for Kosaki Overgrowth Syndrome

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Genetic tests related to Kosaki Overgrowth Syndrome:

# Genetic test Affiliating Genes
1 Kosaki Overgrowth Syndrome 29 PDGFRB
Sources

Anatomical Context for Kosaki Overgrowth Syndrome

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MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:

40
Skin
Sources

Publications for Kosaki Overgrowth Syndrome

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Articles related to Kosaki Overgrowth Syndrome:

(show all 40)
# Title Authors PMID Year
1
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. 6 57
25454926 2015
2
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. 57
21307714 2011
3
PDGF receptor mutations in human diseases. 61
33449152 2021
4
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. 61
33382209 2020
5
Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome. 61
32904243 2020
6
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. 61
32291752 2020
7
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. 61
32500973 2020
8
The patient results and satisfaction of knee arthroplasty in a validated grading system. 61
31515593 2019
9
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. 61
31710779 2019
10
Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. 61
31323115 2019
11
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 61
31004414 2019
12
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. 61
30941910 2019
13
The Knee Osteoarthritis Grading System for Arthroplasty. 61
30528787 2019
14
Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. 61
30031711 2018
15
Phenotype expansion and development in Kosaki overgrowth syndrome. 61
29226947 2018
16
An integrated metabolic consequence of Hepatospora eriocheir infection in the Chinese mitten crab Eriocheir sinensis. 61
29146449 2018
17
Expansion of the phenotype of Kosaki overgrowth syndrome. 61
28639748 2017
18
STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ. 61
28924035 2017
19
De Novo Transcriptome Analysis of Differential Functional Gene Expression in Largemouth Bass (Micropterus salmoides) after Challenge with Nocardia seriolae. 61
27529219 2016
20
Characterization and comparative profiling of the small RNA transcriptomes in two phases of flowering in Cymbidium ensifolium. 61
26289943 2015
21
Evaluation of BLAST-based edge-weighting metrics used for homology inference with the Markov Clustering algorithm. 61
26160651 2015
22
De novo transcriptomic analysis of peripheral blood lymphocytes from the Chinese goose: gene discovery and immune system pathway description. 61
25816068 2015
23
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
24
Development of Cymbidium ensifolium genic-SSR markers and their utility in genetic diversity and population structure analysis in cymbidiums. 61
25481640 2014
25
RNA-seq analysis of Quercus pubescens Leaves: de novo transcriptome assembly, annotation and functional markers development. 61
25393112 2014
26
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
27
Deep sequencing-based analysis of the Cymbidium ensifolium floral transcriptome. 61
24392013 2013
28
Insights into the loblolly pine genome: characterization of BAC and fosmid sequences. 61
24023741 2013
29
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. 61
22096231 2012
30
Evolutionary plasticity determination by orthologous groups distribution. 61
21586164 2011
31
Cophenetic correlation analysis as a strategy to select phylogenetically informative proteins: an example from the fungal kingdom. 61
17688684 2007
32
Analysis of expressed sequence tags from the fungus Aspergillus oryzae cultured under different conditions. 61
17540709 2007
33
Phylogenomics reveal a robust fungal tree of life. 61
17156018 2006
34
An initial strategy for comparing proteins at the domain architecture level. 61
16837531 2006
35
Automatic clustering of orthologs and inparalogs shared by multiple proteomes. 61
16873526 2006
36
YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms. 61
16845020 2006
37
WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. 61
15608221 2005
38
A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes. 61
14759257 2004
39
Gene loss, protein sequence divergence, gene dispensability, expression level, and interactivity are correlated in eukaryotic evolution. 61
14525925 2003
40
The COG database: an updated version includes eukaryotes. 61
12969510 2003
Sources

Variations for Kosaki Overgrowth Syndrome

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ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

6 (show top 50) (show all 68)
# 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.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 5:149505134-149505134 5:150125571-150125571
3 PDGFRB NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) SNV Uncertain significance 948189 5:149499685-149499685 5:150120122-150120122
4 PDGFRB NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) SNV Uncertain significance 951630 5:149515306-149515306 5:150135743-150135743
5 PDGFRB NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) SNV Uncertain significance 955087 5:149514567-149514567 5:150135004-150135004
6 PDGFRB NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) SNV Uncertain significance 958188 5:149498342-149498342 5:150118779-150118779
7 PDGFRB NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) SNV Uncertain significance 958594 5:149500570-149500570 5:150121007-150121007
8 PDGFRB NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) SNV Uncertain significance 971582 5:149515148-149515148 5:150135585-150135585
9 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>T SNV Uncertain significance 540599 rs369842668 5:149503808-149503808 5:150124245-150124245
10 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) SNV Uncertain significance 863633 5:149505049-149505049 5:150125486-150125486
11 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) SNV Uncertain significance 863739 5:149515439-149515439 5:150135876-150135876
12 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>T SNV Uncertain significance 572749 rs571983343 5:149500576-149500576 5:150121013-150121013
13 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) SNV Uncertain significance 576602 rs1561984983 5:149497379-149497379 5:150117816-150117816
14 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) SNV Uncertain significance 581169 rs374802057 5:149511568-149511568 5:150132005-150132005
15 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) SNV Uncertain significance 581888 rs1312583190 5:149510123-149510123 5:150130560-150130560
16 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) SNV Uncertain significance 582961 rs1562011077 5:149514460-149514460 5:150134897-150134897
17 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 584307 5:149503793-149516630 5:150124230-150137067
18 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) SNV Uncertain significance 639829 rs1580808180 5:149512503-149512503 5:150132940-150132940
19 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) SNV Uncertain significance 656806 rs770027941 5:149505038-149505038 5:150125475-150125475
20 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) SNV Uncertain significance 663275 rs765124485 5:149509449-149509449 5:150129886-150129886
21 PDGFRB NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) SNV Likely benign 707690 rs2229560 5:149514363-149514363 5:150134800-150134800
22 PDGFRB NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) SNV Likely benign 711863 rs199649903 5:149504384-149504384 5:150124821-150124821
23 PDGFRB NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) SNV Likely benign 712760 rs144234864 5:149499618-149499618 5:150120055-150120055
24 PDGFRB NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) SNV Likely benign 712778 rs375836509 5:149497285-149497285 5:150117722-150117722
25 PDGFRB NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) SNV Likely benign 712779 rs776113877 5:149497321-149497321 5:150117758-150117758
26 PDGFRB NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) SNV Likely benign 733483 rs35731372 5:149497358-149497358 5:150117795-150117795
27 PDGFRB NM_002609.4(PDGFRB):c.726G>C (p.Val242=) SNV Likely benign 735955 rs149027530 5:149513477-149513477 5:150133914-150133914
28 PDGFRB NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) SNV Likely benign 736581 rs555800957 5:149501549-149501549 5:150121986-150121986
29 PDGFRB NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) SNV Likely benign 767315 rs141511317 5:149495443-149495443 5:150115880-150115880
30 PDGFRB NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) SNV Likely benign 707454 rs142992960 5:149509395-149509395 5:150129832-150129832
31 PDGFRB NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) SNV Likely benign 783158 rs75748462 5:149497346-149497346 5:150117783-150117783
32 PDGFRB NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) SNV Likely benign 785900 rs370594710 5:149497399-149497399 5:150117836-150117836
33 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) SNV Likely benign 540600 rs540480924 5:149509427-149509427 5:150129864-150129864
34 PDGFRB NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) SNV Likely benign 772270 rs147303614 5:149515219-149515219 5:150135656-150135656
35 PDGFRB NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) SNV Likely benign 772273 rs371192118 5:149509345-149509345 5:150129782-150129782
36 PDGFRB NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) SNV Benign 772279 rs200684708 5:149512332-149512332 5:150132769-150132769
37 PDGFRB NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) SNV Benign 772509 rs116642123 5:149514354-149514354 5:150134791-150134791
38 PDGFRB NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) SNV Benign 772768 rs56069016 5:149512495-149512495 5:150132932-150132932
39 PDGFRB NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) SNV Benign 772769 rs138641101 5:149516599-149516599 5:150137036-150137036
40 PDGFRB NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) SNV Benign 774381 rs371550567 5:149509462-149509462 5:150129899-150129899
41 PDGFRB NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) SNV Benign 286389 rs41287108 5:149500514-149500514 5:150120951-150120951
42 PDGFRB NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) SNV Benign 540601 rs55647240 5:149498370-149498370 5:150118807-150118807
43 PDGFRB NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) SNV Benign 540602 rs56078873 5:149505054-149505054 5:150125491-150125491
44 PDGFRB NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) SNV Benign 707672 rs116171826 5:149509506-149509506 5:150129943-150129943
45 PDGFRB NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) SNV Benign 707673 rs149274963 5:149509523-149509523 5:150129960-150129960
46 PDGFRB NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) SNV Benign 285888 rs41287112 5:149512494-149512494 5:150132931-150132931
47 PDGFRB NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) SNV Benign 377063 rs2229558 5:149512407-149512407 5:150132844-150132844
48 PDGFRB NM_002609.4(PDGFRB):c.1872T>C (p.His624=) SNV Benign 767318 rs141371542 5:149504330-149504330 5:150124767-150124767
49 PDGFRB NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) SNV Benign 767332 rs200225593 5:149512321-149512321 5:150132758-150132758
50 PDGFRB NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) SNV Benign 767571 rs183852315 5:149495377-149495377 5:150115814-150115814

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

Sources

Expression for Kosaki Overgrowth Syndrome

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

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Sources

GO Terms for Kosaki Overgrowth Syndrome

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Sources

Sources for Kosaki Overgrowth Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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