Kenny-Caffey Syndrome, Type 2 (KCS2)

Alias:

Kenny-Caffey Syndrome Type 2

Kenny Syndrome

Kcs2

Dwarfism with Cortical Thickening of Tubular Bones and Transient Hypocalcemia

Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia

Autosomal Dominant Kenny-Caffey Syndrome

Kenny-Caffey Syndrome 2

Kenny-Caffey Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kenny-Caffey Syndrome, Type 2, also known as kenny-caffey syndrome type 2, is related to autosomal dominant kenny-caffey syndrome and kenny-caffey syndrome, type 1. An important gene associated with Kenny-Caffey Syndrome, Type 2 is FAM111A (FAM111 Trypsin Like Peptidase A). Affiliated tissues include bone and eye, and related phenotypes are short stature and hypocalcemia

Related ID：

MALACARDS：KNN007

OMIM：127000

MESH：D006958