Khan-Khan-Katsanis Syndrome (3KS)

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OMIM 56 618460 MeSH 43 D000015

MedGen 41 C5193110 CN258822 SNOMED-CT via HPO 68 111266001 111287006 128602000 17268007 197811007 199612005 203598005 204113001 204153003 204317008 22033007 22066006 224958001 237836003 246635007 246920008 249310005 249729002 253160006 253212001 258211005 271611007 28835009 288939007 311897005 32659003 32958008 36440009 385522000 397540003 40739000 413728006 41581000 43064006 432788009 55033002 563001 56731001 57048009 64217002 78164000 7890003 7973008 83330001 88565003 90145001 95726001 more

OMIM : ⁵⁶ 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 spinal cord, heart and kidney, and related phenotypes are global developmental delay and scoliosis

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.

Clinical features from OMIM:

618460

Search Clinical Trials , NIH Clinical Center for Khan-Khan-Katsanis Syndrome

Search GEO for disease gene expression data for Khan-Khan-Katsanis Syndrome.