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KOGS
MCID: KSK002
MIFTS: 23

Kosaki Overgrowth Syndrome (KOGS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues 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 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


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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, 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 ptosis and depressivity

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...

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Related Diseases for Kosaki Overgrowth Syndrome

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Symptoms & Phenotypes for Kosaki Overgrowth Syndrome

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

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Search Clinical Trials , NIH Clinical Center for Kosaki Overgrowth Syndrome

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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
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Anatomical Context for Kosaki Overgrowth Syndrome

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MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:

41
Skin, Brain, Bone
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Publications for Kosaki Overgrowth Syndrome

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Articles related to Kosaki Overgrowth Syndrome:

# Title Authors Year
1
Expansion of the phenotype of Kosaki overgrowth syndrome. ( 28639748 )
2017
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Variations for Kosaki Overgrowth Syndrome

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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 46)
# 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 GRCh37 Chromosome 5, 149514583: 149514583
18 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh38 Chromosome 5, 150135020: 150135020
19 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
20 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
21 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
22 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
23 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
24 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
25 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
26 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
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 GRCh38 Chromosome 5, 150125491: 150125491
30 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh37 Chromosome 5, 149505054: 149505054
31 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
32 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427
33 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh38 Chromosome 5, 150118807: 150118807
34 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh37 Chromosome 5, 149498370: 149498370
35 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 150124230: 150137067
36 PDGFRB NC_000005.10: g.(?_150124230)_(150137067_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 149503793: 149516630
37 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance rs374802057 GRCh37 Chromosome 5, 149511568: 149511568
38 PDGFRB NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg) single nucleotide variant Uncertain significance rs374802057 GRCh38 Chromosome 5, 150132005: 150132005
39 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149514460: 149514460
40 PDGFRB NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150134897: 150134897
41 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150117816: 150117816
42 PDGFRB NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149497379: 149497379
43 PDGFRB NM_002609.3(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance rs571983343 GRCh38 Chromosome 5, 150121013: 150121013
44 PDGFRB NM_002609.3(PDGFRB): c.2464-3C> T single nucleotide variant Uncertain significance rs571983343 GRCh37 Chromosome 5, 149500576: 149500576
45 PDGFRB NM_002609.3(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 150130560: 150130560
46 PDGFRB NM_002609.3(PDGFRB): c.1346C> T (p.Ser449Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 149510123: 149510123
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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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GO Terms for Kosaki Overgrowth Syndrome

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Sources for Kosaki Overgrowth Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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