Kenny-Caffey Syndrome, Type 1 (KCS1)

Alias:

Autosomal Recessive Kenny-Caffey Syndrome

Kenny-Caffey Syndrome Type 1

Kcs1

Kcs

Kenny-Caffey Syndrome, Autosomal Recessive

Kenny-Caffey Syndrome Autosomal Recessive

Kenny-Caffey Syndrome 1

Kenny-Caffey Syndrome-1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kenny-Caffey Syndrome, Type 1, also known as autosomal recessive kenny-caffey syndrome, is related to kenny-caffey syndrome, type 2 and kenny-caffey syndrome. An important gene associated with Kenny-Caffey Syndrome, Type 1 is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Oxidation by cytochrome P450. Affiliated tissues include bone and bone marrow, and related phenotypes are hypocalcemia and congenital hypoparathyroidism

Related ID：

MALACARDS：KNN009

OMIM：244460

MESH：D006958