3KS
MCID: KHN002
MIFTS: 23
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Khan-Khan-Katsanis Syndrome (3KS)
Categories:
Bone diseases, Genetic diseases, Nephrological diseases, Neuronal diseases
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MalaCards integrated aliases for Khan-Khan-Katsanis Syndrome:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype onset in utero two unrelated patients have been reported (last curated june 2019) HPO:31
khan-khan-katsanis syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Bone diseases Nephrological diseases |
OMIM® :
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) (Updated 05-Mar-2021)
MalaCards based summary : Khan-Khan-Katsanis Syndrome, is also known as 3k syndrome. An important gene associated with Khan-Khan-Katsanis Syndrome is NCAPG2 (Non-SMC Condensin II Complex Subunit G2). Affiliated tissues include spinal cord and heart, and related phenotypes are failure to thrive and frontal bossing UniProtKB/Swiss-Prot : 73 Khan-Khan-Katsanis syndrome: An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. |
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Human phenotypes related to Khan-Khan-Katsanis Syndrome:31 (show all 37)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618460 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Khan-Khan-Katsanis Syndrome:40
Spinal Cord,
Heart
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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
UniProtKB/Swiss-Prot genetic disease variations for Khan-Khan-Katsanis Syndrome:73
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Search
GEO
for disease gene expression data for Khan-Khan-Katsanis Syndrome.
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