KOGS
MCID: KSK002
MIFTS: 31

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 57 75 59 74 29 6 40
Skeletal Overgrowth with Facial Dysmorphism, Hyperelastic Skin, White Matter Lesions, and Neurologic Deterioration 57 74
Kogs 57 74
Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
kosaki overgrowth syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616592
MeSH 44 D006130
Orphanet 59 ORPHA477831

Summaries for Kosaki Overgrowth Syndrome

OMIM : 57 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 ptosis

UniProtKB/Swiss-Prot : 74 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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 10.4
2 scoliosis 10.3
3 basal ganglia calcification 10.2
4 infantile myofibromatosis 10.2
5 hydrocephalus 10.2
6 ectropion 10.2
7 myofibroma 10.2
8 arachnoid cysts 10.2
9 congenital hydrocephalus 10.2
10 premature aging 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 anxiety 32 occasional (7.5%) HP:0000739
2 ptosis 32 HP:0000508
3 depressivity 32 HP:0000716
4 prominent supraorbital ridges 32 HP:0000336
5 wide nasal bridge 32 HP:0000431
6 prominent forehead 32 HP:0011220
7 thin skin 32 HP:0000963
8 downslanted palpebral fissures 32 HP:0000494
9 thin upper lip vermilion 32 HP:0000219
10 proptosis 32 HP:0000520
11 pointed chin 32 HP:0000307
12 hyperextensible skin 32 HP:0000974
13 overgrowth 32 HP:0001548
14 thoracolumbar scoliosis 32 HP:0002944
15 long foot 32 HP:0001833
16 progressive neurologic deterioration 32 HP:0002344
17 fragile skin 32 HP:0001030

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
proptosis
downslanting palpebral fissures

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

Growth Height:
tall stature

Skeletal Spine:
thoracolumbar scoliosis

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

Skin Nails Hair Skin:
thin skin
fragile skin
hyperelastic skin

Skeletal:
overgrowth

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

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:

41
Skin, Brain, Bone, Testes

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

(show all 33)
# Title Authors PMID Year
1
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. 8 71
25454926 2015
2
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. 8
21307714 2011
3
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. 38
31004414 2019
4
Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. 38
31323115 2019
5
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. 38
30941910 2019
6
The Knee Osteoarthritis Grading System for Arthroplasty. 38
30528787 2019
7
Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. 38
30031711 2018
8
Phenotype expansion and development in Kosaki overgrowth syndrome. 38
29226947 2018
9
An integrated metabolic consequence of Hepatospora eriocheir infection in the Chinese mitten crab Eriocheir sinensis. 38
29146449 2018
10
Expansion of the phenotype of Kosaki overgrowth syndrome. 38
28639748 2017
11
STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ. 38
28924035 2017
12
De Novo Transcriptome Analysis of Differential Functional Gene Expression in Largemouth Bass (Micropterus salmoides) after Challenge with Nocardia seriolae. 38
27529219 2016
13
Characterization and comparative profiling of the small RNA transcriptomes in two phases of flowering in Cymbidium ensifolium. 38
26289943 2015
14
Evaluation of BLAST-based edge-weighting metrics used for homology inference with the Markov Clustering algorithm. 38
26160651 2015
15
De novo transcriptomic analysis of peripheral blood lymphocytes from the Chinese goose: gene discovery and immune system pathway description. 38
25816068 2015
16
Genome-Wide Profiling of Histone Modifications (H3K9me2 and H4K12ac) and Gene Expression in Rust (Uromyces appendiculatus) Inoculated Common Bean (Phaseolus vulgaris L.). 38
26167691 2015
17
Development of Cymbidium ensifolium genic-SSR markers and their utility in genetic diversity and population structure analysis in cymbidiums. 38
25481640 2014
18
RNA-seq analysis of Quercus pubescens Leaves: de novo transcriptome assembly, annotation and functional markers development. 38
25393112 2014
19
Autonomic dysfunction in patients with orthostatic dizziness: validation of orthostatic grading scale and comparison of Valsalva maneuver and head-up tilt testing results. 38
23294495 2013
20
Deep sequencing-based analysis of the Cymbidium ensifolium floral transcriptome. 38
24392013 2013
21
Insights into the loblolly pine genome: characterization of BAC and fosmid sequences. 38
24023741 2013
22
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. 38
22096231 2012
23
Evolutionary plasticity determination by orthologous groups distribution. 38
21586164 2011
24
Cophenetic correlation analysis as a strategy to select phylogenetically informative proteins: an example from the fungal kingdom. 38
17688684 2007
25
Analysis of expressed sequence tags from the fungus Aspergillus oryzae cultured under different conditions. 38
17540709 2007
26
Phylogenomics reveal a robust fungal tree of life. 38
17156018 2006
27
An initial strategy for comparing proteins at the domain architecture level. 38
16837531 2006
28
Automatic clustering of orthologs and inparalogs shared by multiple proteomes. 38
16873526 2006
29
YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms. 38
16845020 2006
30
WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. 38
15608221 2005
31
A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes. 38
14759257 2004
32
Gene loss, protein sequence divergence, gene dispensability, expression level, and interactivity are correlated in eukaryotic evolution. 38
14525925 2003
33
The COG database: an updated version includes eukaryotes. 38
12969510 2003

Variations for Kosaki Overgrowth Syndrome

ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRB NM_002609.4(PDGFRB): c.1751C> G (p.Pro584Arg) single nucleotide variant Pathogenic rs863224946 5:149505064-149505064 5:150125501-150125501
2 PDGFRB NM_002609.4(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 5:149503808-149503808 5:150124245-150124245
3 PDGFRB NM_002609.4(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 5:149509427-149509427 5:150129864-150129864
4 PDGFRB NC_000005.9: g.(?_149503793)_(149516630_?)dup duplication Uncertain significance 5:149503793-149516630 5:150124230-150137067
5 PDGFRB NM_002609.4(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance 5:149511568-149511568 5:150132005-150132005
6 PDGFRB NM_002609.4(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance 5:149514460-149514460 5:150134897-150134897
7 PDGFRB NM_002609.4(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance 5:149497379-149497379 5:150117816-150117816
8 PDGFRB NM_002609.4(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance 5:149500576-149500576 5:150121013-150121013
9 PDGFRB NM_002609.4(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance 5:149510123-149510123 5:150130560-150130560
10 PDGFRB NM_002609.4(PDGFRB): c.1777T> C (p.Trp593Arg) single nucleotide variant Uncertain significance 5:149505038-149505038 5:150125475-150125475
11 PDGFRB NM_002609.4(PDGFRB): c.1450G> A (p.Glu484Lys) single nucleotide variant Uncertain significance 5:149509449-149509449 5:150129886-150129886
12 PDGFRB NM_002609.4(PDGFRB): c.937A> G (p.Ser313Gly) single nucleotide variant Uncertain significance 5:149512503-149512503 5:150132940-150132940
13 PDGFRB NM_002609.4(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 5:149512407-149512407 5:150132844-150132844
14 PDGFRB NM_002609.4(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 5:149500514-149500514 5:150120951-150120951
15 PDGFRB NM_002609.4(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 5:149515397-149515397 5:150135834-150135834
16 PDGFRB NM_002609.4(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 5:149498370-149498370 5:150118807-150118807
17 PDGFRB NM_002609.4(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 5:149505054-149505054 5:150125491-150125491
18 PDGFRB NM_002609.4(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 5:149504348-149504348 5:150124785-150124785
19 PDGFRB NM_002609.4(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 5:149509394-149509394 5:150129831-150129831
20 PDGFRB NM_002609.4(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 5:149497199-149497199 5:150117636-150117636
21 PDGFRB NM_002609.4(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 5:149511636-149511636 5:150132073-150132073
22 PDGFRB NM_002609.4(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 5:149514583-149514583 5:150135020-150135020
23 PDGFRB NM_002609.4(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 5:149499657-149499657 5:150120094-150120094
24 PDGFRB NM_002609.4(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 5:149509446-149509446 5:150129883-150129883
25 PDGFRB NM_002609.4(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 5:149509508-149509508 5:150129945-150129945
26 PDGFRB NM_002609.4(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 5:149515380-149515380 5:150135817-150135817

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

74
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....