Kosaki Overgrowth Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KOGS MCID: KSK002 MIFTS: 31	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 Expand all tables

Sources

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:

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

External Ids:

OMIM ⁵⁶ 616592

MeSH ⁴³ D006130

Orphanet ⁵⁸ ORPHA477831

MedGen ⁴¹ C4225270 CN233141

SNOMED-CT via HPO ⁶⁸ 11934000 18265008 21061000119107 more

Sources

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 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...

Sources

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
1	overgrowth syndrome	10.5
2	scoliosis	10.4
3	basal ganglia calcification	10.3
4	myofibroma	10.3
5	premature aging	10.3
6	arachnoid cysts, intracranial	10.2
7	dandy-walker syndrome	10.2
8	infantile myofibromatosis	10.2
9	hydrocephalus	10.2
10	ectropion	10.2

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

Sources

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	ptosis ³¹		HP:0000508
3	depressivity ³¹		HP:0000716
4	prominent supraorbital ridges ³¹		HP:0000336
5	wide nasal bridge ³¹		HP:0000431
6	downslanted palpebral fissures ³¹		HP:0000494
7	prominent forehead ³¹		HP:0011220
8	thin skin ³¹		HP:0000963
9	thin upper lip vermilion ³¹		HP:0000219
10	proptosis ³¹		HP:0000520
11	progressive neurologic deterioration ³¹		HP:0002344
12	pointed chin ³¹		HP:0000307
13	hyperextensible skin ³¹		HP:0000974
14	overgrowth ³¹		HP:0001548
15	thoracolumbar scoliosis ³¹		HP:0002944
16	long foot ³¹		HP:0001833
17	fragile skin ³¹		HP:0001030

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Skin Nails Hair Skin:
thin skin
fragile skin
hyperelastic skin

Growth Height:
tall stature

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

Sources

Drugs & Therapeutics for Kosaki Overgrowth Syndrome

Search Clinical Trials , NIH Clinical Center for Kosaki Overgrowth Syndrome

Sources

Genetic Tests for Kosaki Overgrowth Syndrome

Genetic tests related to Kosaki Overgrowth Syndrome:

#	Genetic test	Affiliating Genes
1	Kosaki Overgrowth Syndrome ²⁹	PDGFRB

Sources

Anatomical Context for Kosaki Overgrowth Syndrome

MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:

⁴⁰

Skin, Brain, Bone, Testes

Sources

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

(show all 35)

#	Title	Authors	PMID	Year
1	Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. ⁵⁶ ⁶	Takenouchi T...Kosaki K	25454926	2015
2	Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ⁵⁶	Watanabe K...Matsumoto M	21307714	2011
3	Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. ⁶¹	Takenouchi T...Kosaki K	31710779	2019
4	The patient results and satisfaction of knee arthroplasty in a validated grading system. ⁶¹	Oosthuizen CR...Magobotha S	31515593	2019
5	Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. ⁶¹	Lewis C...Sanderson SC	31323115	2019
6	A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. ⁶¹	Guimier A...Amiel J	31004414	2019
7	Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. ⁶¹	Zarate YA...Collins RT	30941910	2019
8	The Knee Osteoarthritis Grading System for Arthroplasty. ⁶¹	Oosthuizen CR...Pandit H	30528787	2019
9	Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. ⁶¹	Sanderson SC...Lewis C	30031711	2018
10	Phenotype expansion and development in Kosaki overgrowth syndrome. ⁶¹	Gawlinski P...Krajewska-Walasek M	29226947	2018
11	An integrated metabolic consequence of Hepatospora eriocheir infection in the Chinese mitten crab Eriocheir sinensis. ⁶¹	Ding Z...Xu G	29146449	2018
12	Expansion of the phenotype of Kosaki overgrowth syndrome. ⁶¹	Minatogawa M...Curry CJ	28639748	2017
13	STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ. ⁶¹	He C...Olson LE	28924035	2017
14	De Novo Transcriptome Analysis of Differential Functional Gene Expression in Largemouth Bass (Micropterus salmoides) after Challenge with Nocardia seriolae. ⁶¹	Byadgi O...Chen SC	27529219	2016
15	Characterization and comparative profiling of the small RNA transcriptomes in two phases of flowering in Cymbidium ensifolium. ⁶¹	Li X...Jin G	26289943	2015
16	Evaluation of BLAST-based edge-weighting metrics used for homology inference with the Markov Clustering algorithm. ⁶¹	Gibbons TR...Delwiche CF	26160651	2015
17	Genome-Wide Profiling of Histone Modifications (H3K9me2 and H4K12ac) and Gene Expression in Rust (Uromyces appendiculatus) Inoculated Common Bean (Phaseolus vulgaris L.). ⁶¹	Ayyappan V...Kingham B	26167691	2015
18	De novo transcriptomic analysis of peripheral blood lymphocytes from the Chinese goose: gene discovery and immune system pathway description. ⁶¹	Tariq M...Xia C	25816068	2015
19	Development of Cymbidium ensifolium genic-SSR markers and their utility in genetic diversity and population structure analysis in cymbidiums. ⁶¹	Li X...Shu X	25481640	2014
20	RNA-seq analysis of Quercus pubescens Leaves: de novo transcriptome assembly, annotation and functional markers development. ⁶¹	Torre S...Sebastiani F	25393112	2014
21	Autonomic dysfunction in patients with orthostatic dizziness: validation of orthostatic grading scale and comparison of Valsalva maneuver and head-up tilt testing results. ⁶¹	Kim HA...Lim JG	23294495	2013
22	Insights into the loblolly pine genome: characterization of BAC and fosmid sequences. ⁶¹	Wegrzyn JL...Stevens KA	24023741	2013
23	Deep sequencing-based analysis of the Cymbidium ensifolium floral transcriptome. ⁶¹	Li X...Xie M	24392013	2013
24	eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. ⁶¹	Powell S...Bork P	22096231	2012
25	Evolutionary plasticity determination by orthologous groups distribution. ⁶¹	Dalmolin RJ...Moreira JC	21586164	2011
26	Cophenetic correlation analysis as a strategy to select phylogenetically informative proteins: an example from the fungal kingdom. ⁶¹	Kuramae EE...Boekhout T	17688684	2007
27	Analysis of expressed sequence tags from the fungus Aspergillus oryzae cultured under different conditions. ⁶¹	Akao T...Akita O	17540709	2007
28	Phylogenomics reveal a robust fungal tree of life. ⁶¹	Kuramae EE...Boekhout T	17156018	2006
29	An initial strategy for comparing proteins at the domain architecture level. ⁶¹	Lin K...Zhang DY	16837531	2006
30	YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms. ⁶¹	Penkett CJ...Bahler J	16845020	2006
31	Automatic clustering of orthologs and inparalogs shared by multiple proteomes. ⁶¹	Alexeyenko A...Sonnhammer EL	16873526	2006
32	WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. ⁶¹	Chen N...Stein LD	15608221	2005
33	A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes. ⁶¹	Koonin EV...Natale DA	14759257	2004
34	Gene loss, protein sequence divergence, gene dispensability, expression level, and interactivity are correlated in eukaryotic evolution. ⁶¹	Krylov DM...Koonin EV	14525925	2003
35	The COG database: an updated version includes eukaryotes. ⁶¹	Tatusov RL...Natale DA	12969510	2003

Sources

Genes for Kosaki Overgrowth Syndrome

Genes related to Kosaki Overgrowth Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1678.34	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	25454926

Sources

Variations for Kosaki Overgrowth Syndrome

ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

⁶ (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.2023+5C>T	SNV	Uncertain significance	540599	rs369842668	5:149503808-149503808	5:150124245-150124245
3	PDGFRB	NC_000005.9:g.(?_149503793)_(149516630_?)dup	duplication	Uncertain significance	584307		5:149503793-149516630	5:150124230-150137067
4	PDGFRB	NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)	SNV	Uncertain significance	581169	rs374802057	5:149511568-149511568	5:150132005-150132005
5	PDGFRB	NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)	SNV	Uncertain significance	582961	rs1562011077	5:149514460-149514460	5:150134897-150134897
6	PDGFRB	NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)	SNV	Uncertain significance	576602	rs1561984983	5:149497379-149497379	5:150117816-150117816
7	PDGFRB	NM_002609.4(PDGFRB):c.2464-3C>T	SNV	Uncertain significance	572749	rs571983343	5:149500576-149500576	5:150121013-150121013
8	PDGFRB	NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)	SNV	Uncertain significance	581888	rs1312583190	5:149510123-149510123	5:150130560-150130560
9	PDGFRB	NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)	SNV	Uncertain significance	656806		5:149505038-149505038	5:150125475-150125475
10	PDGFRB	NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)	SNV	Uncertain significance	663275		5:149509449-149509449	5:150129886-150129886
11	PDGFRB	NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)	SNV	Uncertain significance	639829		5:149512503-149512503	5:150132940-150132940
12	PDGFRB	NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)	SNV	Benign	258780	rs17110944	5:149515397-149515397	5:150135834-150135834
13	PDGFRB	NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)	SNV	Benign	473404	rs56072663	5:149504348-149504348	5:150124785-150124785
14	PDGFRB	NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)	SNV	Benign	473402	rs41287110	5:149509446-149509446	5:150129883-150129883
15	PDGFRB	NM_002609.4(PDGFRB):c.102C>T (p.Val34=)	SNV	Benign	473399	rs17708515	5:149515380-149515380	5:150135817-150135817

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

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

Sources

Pathways for Kosaki Overgrowth Syndrome

Sources

GO Terms for Kosaki Overgrowth Syndrome

Sources

Sources for Kosaki Overgrowth Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Kosaki Overgrowth Syndrome (KOGS)

Aliases & Classifications for Kosaki Overgrowth Syndrome

MalaCards integrated aliases for Kosaki Overgrowth Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Kosaki Overgrowth Syndrome

Related Diseases for Kosaki Overgrowth Syndrome

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

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

Symptoms & Phenotypes for Kosaki Overgrowth Syndrome

Human phenotypes related to Kosaki Overgrowth Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Kosaki Overgrowth Syndrome

Genetic Tests for Kosaki Overgrowth Syndrome

Genetic tests related to Kosaki Overgrowth Syndrome:

Anatomical Context for Kosaki Overgrowth Syndrome

MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

Genes for Kosaki Overgrowth Syndrome

Genes related to Kosaki Overgrowth Syndrome (1 elite genes):

Variations for Kosaki Overgrowth Syndrome

ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

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

Expression for Kosaki Overgrowth Syndrome

Pathways for Kosaki Overgrowth Syndrome

GO Terms for Kosaki Overgrowth Syndrome

Sources for Kosaki Overgrowth Syndrome