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3KS
MCID: KHN002
MIFTS: 19
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Khan-Khan-Katsanis Syndrome (3KS)
Categories:
Genetic diseases
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MalaCards integrated aliases for Khan-Khan-Katsanis Syndrome:
Name: Khan-Khan-Katsanis Syndrome
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype onset in utero two unrelated patients have been reported (last curated june 2019) Classifications: |
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OMIM
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57
Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019). (618460)
MalaCards based summary : Khan-Khan-Katsanis Syndrome, also known as 3k syndrome, is related to muscular dystrophy, congenital merosin-deficient, 1a and muscular dystrophy, congenital, lmna-related. An important gene associated with Khan-Khan-Katsanis Syndrome is NCAPG2 (Non-SMC Condensin II Complex Subunit G2). Affiliated tissues include heart, kidney and spinal cord. |
Diseases related to Khan-Khan-Katsanis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Khan-Khan-Katsanis Syndrome:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618460 |
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MalaCards organs/tissues related to Khan-Khan-Katsanis Syndrome:41
Heart,
Kidney,
Spinal Cord
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Articles related to Khan-Khan-Katsanis Syndrome:
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ClinVar genetic disease variations for Khan-Khan-Katsanis Syndrome:6
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Search
GEO
for disease gene expression data for Khan-Khan-Katsanis Syndrome.
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