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

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616592

MeSH ⁴⁴ D006130

Orphanet ⁵⁹ ORPHA477831

MedGen ⁴² C4225270 CN233141

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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...

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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	10.4
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:

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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

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Drugs & Therapeutics for Kosaki Overgrowth Syndrome

Search Clinical Trials , NIH Clinical Center for Kosaki Overgrowth Syndrome

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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:

⁴¹

Skin, Brain, Bone, Testes

Sources

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	Takenouchi T...Kosaki K	25454926	2015
2	Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ⁸	Watanabe K...Matsumoto M	21307714	2011
3	A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. ³⁸	Guimier A...Amiel J	31004414	2019
4	Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. ³⁸	Lewis C...Sanderson SC	31323115	2019
5	Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. ³⁸	Zarate YA...Collins RT	30941910	2019
6	The Knee Osteoarthritis Grading System for Arthroplasty. ³⁸	Oosthuizen CR...Pandit H	30528787	2019
7	Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. ³⁸	Sanderson SC...Lewis C	30031711	2018
8	Phenotype expansion and development in Kosaki overgrowth syndrome. ³⁸	Gawlinski P...Krajewska-Walasek M	29226947	2018
9	An integrated metabolic consequence of Hepatospora eriocheir infection in the Chinese mitten crab Eriocheir sinensis. ³⁸	Ding Z...Xu G	29146449	2018
10	Expansion of the phenotype of Kosaki overgrowth syndrome. ³⁸	Minatogawa M...Curry CJ	28639748	2017
11	STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ. ³⁸	He C...Olson LE	28924035	2017
12	De Novo Transcriptome Analysis of Differential Functional Gene Expression in Largemouth Bass (Micropterus salmoides) after Challenge with Nocardia seriolae. ³⁸	Byadgi O...Chen SC	27529219	2016
13	Characterization and comparative profiling of the small RNA transcriptomes in two phases of flowering in Cymbidium ensifolium. ³⁸	Li X...Jin G	26289943	2015
14	Evaluation of BLAST-based edge-weighting metrics used for homology inference with the Markov Clustering algorithm. ³⁸	Gibbons TR...Delwiche CF	26160651	2015
15	De novo transcriptomic analysis of peripheral blood lymphocytes from the Chinese goose: gene discovery and immune system pathway description. ³⁸	Tariq M...Xia C	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	Ayyappan V...Kingham B	26167691	2015
17	Development of Cymbidium ensifolium genic-SSR markers and their utility in genetic diversity and population structure analysis in cymbidiums. ³⁸	Li X...Shu X	25481640	2014
18	RNA-seq analysis of Quercus pubescens Leaves: de novo transcriptome assembly, annotation and functional markers development. ³⁸	Torre S...Sebastiani F	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	Kim HA...Lim JG	23294495	2013
20	Deep sequencing-based analysis of the Cymbidium ensifolium floral transcriptome. ³⁸	Li X...Xie M	24392013	2013
21	Insights into the loblolly pine genome: characterization of BAC and fosmid sequences. ³⁸	Wegrzyn JL...Stevens KA	24023741	2013
22	eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. ³⁸	Powell S...Bork P	22096231	2012
23	Evolutionary plasticity determination by orthologous groups distribution. ³⁸	Dalmolin RJ...Moreira JC	21586164	2011
24	Cophenetic correlation analysis as a strategy to select phylogenetically informative proteins: an example from the fungal kingdom. ³⁸	Kuramae EE...Boekhout T	17688684	2007
25	Analysis of expressed sequence tags from the fungus Aspergillus oryzae cultured under different conditions. ³⁸	Akao T...Akita O	17540709	2007
26	Phylogenomics reveal a robust fungal tree of life. ³⁸	Kuramae EE...Boekhout T	17156018	2006
27	An initial strategy for comparing proteins at the domain architecture level. ³⁸	Lin K...Zhang DY	16837531	2006
28	Automatic clustering of orthologs and inparalogs shared by multiple proteomes. ³⁸	Alexeyenko A...Sonnhammer EL	16873526	2006
29	YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms. ³⁸	Penkett CJ...Bahler J	16845020	2006
30	WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. ³⁸	Chen N...Stein LD	15608221	2005
31	A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes. ³⁸	Koonin EV...Natale DA	14759257	2004
32	Gene loss, protein sequence divergence, gene dispensability, expression level, and interactivity are correlated in eukaryotic evolution. ³⁸	Krylov DM...Koonin EV	14525925	2003
33	The COG database: an updated version includes eukaryotes. ³⁸	Tatusov RL...Natale DA	12969510	2003

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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	1688.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	25454926

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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

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Expression for Kosaki Overgrowth Syndrome

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

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Pathways for Kosaki Overgrowth Syndrome

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GO Terms for Kosaki Overgrowth Syndrome

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Sources for Kosaki Overgrowth Syndrome

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³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

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⁴⁸ NCBI Bookshelf

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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