KOGS
MCID: KSK002
MIFTS: 32
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Kosaki Overgrowth Syndrome (KOGS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Kosaki Overgrowth Syndrome:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
based on report of 2 unrelated japanese girls (last curated october 2015) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Neuronal diseases Skin diseases
Orphanet: 58
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OMIM® :
57
Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad 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) (Updated 05-Mar-2021)
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, 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... |
Diseases related to Kosaki Overgrowth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 20)
Graphical network of the top 20 diseases related to Kosaki Overgrowth Syndrome:![]() |
Human phenotypes related to Kosaki Overgrowth Syndrome:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616592 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Kosaki Overgrowth Syndrome:40
Skin
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Articles related to Kosaki Overgrowth Syndrome:(show all 40)
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ClinVar genetic disease variations for Kosaki Overgrowth Syndrome:6 (show top 50) (show all 68)
UniProtKB/Swiss-Prot genetic disease variations for Kosaki Overgrowth Syndrome:73
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Search
GEO
for disease gene expression data for Kosaki Overgrowth Syndrome.
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