Chitotriosidase Deficiency; Chitd

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Chitotriosidase Deficiency; Chitd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chitotriosidase deficiency (sequence analysis of CHIT1 gene). By CGC Genetics (Portugal). CHIT1 Specificity 100 % Genes 100 %
CHIT1. By Fulgent Genetics Fulgent Genetics (United States). CHIT1 Specificity 100 % Genes 100 %
CHITOTRIOSIDASE DEFICIENCY. By Laboratorio de Genetica Clinica SL (Spain). CHIT1 Specificity 100 % Genes 100 %
Chitotriosidase Deficiency , Sequencing CHIT1 Gene. By Reference Laboratory Genetics (Spain). CHIT1 Specificity 100 % Genes 100 %

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROBLASTOMA, SUSCEPTIBILITY TO PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK THANATOPHORIC DYSPLASIA, TYPE II; TD2 CRANIOECTODERMAL DYSPLASIA 2; CED2 COFFIN-SIRIS SYNDROME 1; CSS1 SHAHEEN SYNDROME; SHNS CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM