KPTS
MCID: KPR003
MIFTS: 25
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Keipert Syndrome (KPTS)
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Keipert Syndrome:
Characteristics:Classifications:
ICD10:
34
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OMIM
:
57
Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019). (301026)
MalaCards based summary : Keipert Syndrome, also known as nasodigitoacoustic syndrome, formerly, is related to nasodigitoacoustic syndrome and branchiootic syndrome 1. An important gene associated with Keipert Syndrome is GPC4 (Glypican 4), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include heart, and related phenotypes are hypertelorism and depressed nasal bridge KEGG : 37 ![]() |
Diseases related to Keipert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Keipert Syndrome:![]() |
Human phenotypes related to Keipert Syndrome:59 32 (show all 25)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:301026 |
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MalaCards organs/tissues related to Keipert Syndrome:41
Heart
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Articles related to Keipert Syndrome:(show all 12)
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ClinVar genetic disease variations for Keipert Syndrome:6
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Search
GEO
for disease gene expression data for Keipert Syndrome.
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Pathways related to Keipert Syndrome according to KEGG:37
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