MCID: KSK002
MIFTS: 23

Kosaki Overgrowth Syndrome

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Skin diseases

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:



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...

Related Diseases for Kosaki Overgrowth Syndrome

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

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

Publications for Kosaki Overgrowth Syndrome

Articles related to Kosaki Overgrowth Syndrome:

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

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

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

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17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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