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

Sources

Aliases & Classifications for Kosaki Overgrowth Syndrome

MalaCards integrated aliases for Kosaki Overgrowth Syndrome:

Name: Kosaki Overgrowth Syndrome ⁵⁷ ⁷⁶ ⁵⁹ ⁷⁵ ²⁹ ⁶ ⁴⁰

Skeletal Overgrowth with Facial Dysmorphism, Hyperelastic Skin, White Matter Lesions, and Neurologic Deterioration ⁵⁷ ⁷⁵

Kogs ⁵⁷ ⁷⁵

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

Orphanet ⁵⁹ ORPHA477831

MedGen ⁴² C4225270 CN233141

MeSH ⁴⁴ D006130

SNOMED-CT via HPO ⁶⁹ 263681008 249321001 246800008 more

Sources

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, is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration. 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 thin upper lip vermilion and pointed chin

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Kosaki overgrowth syndrome (KOGS) is a rare syndrome caused by mutations in the PDGFRB... more...

Sources

Related Diseases for Kosaki Overgrowth Syndrome

Sources

Symptoms & Phenotypes for Kosaki Overgrowth Syndrome

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

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

Head And Neck Mouth:
thin upper lip

Skeletal Hands:
long hands

Skeletal Limbs:
long lower segment

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

Head And Neck Nose:
wide nasal bridge

Skin Nails Hair Skin:
thin skin
fragile skin
hyperelastic skin

Skeletal:
overgrowth

Skeletal Spine:
thoracolumbar scoliosis

Skeletal Skull:
prominent supraorbital ridge
protrusion of posterior fossa

Skeletal Feet:
long feet

Muscle Soft Tissue:
myofibroma (in 1 patient)

Clinical features from OMIM:

616592

Human phenotypes related to Kosaki Overgrowth Syndrome:

³² (show all 17)

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

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:

⁴¹

Skin, Brain, Bone

Sources

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

#	Title	Authors	Year
1	Expansion of the phenotype of Kosaki overgrowth syndrome. ( 28639748 )	Minatogawa M....Curry C.J.	2017

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	1688.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	25454926

Sources

Variations for Kosaki Overgrowth Syndrome

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

⁷⁵

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

ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:

⁶

(show all 34)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PDGFRB	NM_002609.3(PDGFRB): c.1751C> G (p.Pro584Arg)	single nucleotide variant	Pathogenic	rs863224946	GRCh38	Chromosome 5, 150125501: 150125501
2	PDGFRB	NM_002609.3(PDGFRB): c.1751C> G (p.Pro584Arg)	single nucleotide variant	Pathogenic	rs863224946	GRCh37	Chromosome 5, 149505064: 149505064
3	PDGFRB	NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe)	single nucleotide variant	Benign	rs17110944	GRCh38	Chromosome 5, 150135834: 150135834
4	PDGFRB	NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe)	single nucleotide variant	Benign	rs17110944	GRCh37	Chromosome 5, 149515397: 149515397
5	PDGFRB	NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=)	single nucleotide variant	Benign/Likely benign	rs41287108	GRCh37	Chromosome 5, 149500514: 149500514
6	PDGFRB	NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=)	single nucleotide variant	Benign/Likely benign	rs41287108	GRCh38	Chromosome 5, 150120951: 150120951
7	PDGFRB	NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser)	single nucleotide variant	Benign/Likely benign	rs2229558	GRCh37	Chromosome 5, 149512407: 149512407
8	PDGFRB	NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser)	single nucleotide variant	Benign/Likely benign	rs2229558	GRCh38	Chromosome 5, 150132844: 150132844
9	PDGFRB	NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=)	single nucleotide variant	Benign	rs56072663	GRCh37	Chromosome 5, 149504348: 149504348
10	PDGFRB	NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=)	single nucleotide variant	Benign	rs56072663	GRCh38	Chromosome 5, 150124785: 150124785
11	PDGFRB	NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln)	single nucleotide variant	Benign	rs148974733	GRCh37	Chromosome 5, 149509394: 149509394
12	PDGFRB	NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln)	single nucleotide variant	Benign	rs148974733	GRCh38	Chromosome 5, 150129831: 150129831
13	PDGFRB	NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val)	single nucleotide variant	Benign	rs149417689	GRCh37	Chromosome 5, 149497199: 149497199
14	PDGFRB	NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val)	single nucleotide variant	Benign	rs149417689	GRCh38	Chromosome 5, 150117636: 150117636
15	PDGFRB	NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=)	single nucleotide variant	Benign	rs2228439	GRCh37	Chromosome 5, 149511636: 149511636
16	PDGFRB	NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=)	single nucleotide variant	Benign	rs2228439	GRCh38	Chromosome 5, 150132073: 150132073
17	PDGFRB	NM_002609.3(PDGFRB): c.365-4G> T	single nucleotide variant	Benign	rs139448702	GRCh38	Chromosome 5, 150135020: 150135020
18	PDGFRB	NM_002609.3(PDGFRB): c.365-4G> T	single nucleotide variant	Benign	rs139448702	GRCh37	Chromosome 5, 149514583: 149514583
19	PDGFRB	NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=)	single nucleotide variant	Benign	rs148709288	GRCh38	Chromosome 5, 150120094: 150120094
20	PDGFRB	NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=)	single nucleotide variant	Benign	rs148709288	GRCh37	Chromosome 5, 149499657: 149499657
21	PDGFRB	NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys)	single nucleotide variant	Benign	rs41287110	GRCh37	Chromosome 5, 149509446: 149509446
22	PDGFRB	NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys)	single nucleotide variant	Benign	rs41287110	GRCh38	Chromosome 5, 150129883: 150129883
23	PDGFRB	NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met)	single nucleotide variant	Benign	rs74943037	GRCh38	Chromosome 5, 150129945: 150129945
24	PDGFRB	NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met)	single nucleotide variant	Benign	rs74943037	GRCh37	Chromosome 5, 149509508: 149509508
25	PDGFRB	NM_002609.3(PDGFRB): c.102C> T (p.Val34=)	single nucleotide variant	Benign	rs17708515	GRCh38	Chromosome 5, 150135817: 150135817
26	PDGFRB	NM_002609.3(PDGFRB): c.102C> T (p.Val34=)	single nucleotide variant	Benign	rs17708515	GRCh37	Chromosome 5, 149515380: 149515380
27	PDGFRB	NM_002609.3(PDGFRB): c.2023+5C> T	single nucleotide variant	Uncertain significance	rs369842668	GRCh38	Chromosome 5, 150124245: 150124245
28	PDGFRB	NM_002609.3(PDGFRB): c.2023+5C> T	single nucleotide variant	Uncertain significance	rs369842668	GRCh37	Chromosome 5, 149503808: 149503808
29	PDGFRB	NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=)	single nucleotide variant	Benign	rs56078873	GRCh37	Chromosome 5, 149505054: 149505054
30	PDGFRB	NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=)	single nucleotide variant	Benign	rs56078873	GRCh38	Chromosome 5, 150125491: 150125491
31	PDGFRB	NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala)	single nucleotide variant	Uncertain significance	rs540480924	GRCh37	Chromosome 5, 149509427: 149509427
32	PDGFRB	NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala)	single nucleotide variant	Uncertain significance	rs540480924	GRCh38	Chromosome 5, 150129864: 150129864
33	PDGFRB	NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=)	single nucleotide variant	Benign	rs55647240	GRCh37	Chromosome 5, 149498370: 149498370
34	PDGFRB	NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=)	single nucleotide variant	Benign	rs55647240	GRCh38	Chromosome 5, 150118807: 150118807

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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia