loading...| Preferred Name |
Dyskeratosis congenita |
|
| Synonyms |
DC |
|
| Definitions |
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_1775 |
|
| alternative_term |
DC Zinsser-Engman-Cole syndrome DKC |
|
| definition |
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 |
|
| has_age_of_onset |
Adolescent Adult Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
|
| hasDbXref |
OMIM:615190 ICD-11:3A70.0 OMIM:127550 OMIM:305000 OMIM:620040 ICD-10:Q82.8 UMLS:C0265965 OMIM:224230 MeSH:D019871 OMIM:620133 MedDRA:10062759 OMIM:613987 OMIM:613988 OMIM:613989 OMIM:613990 OMIM:616353 |
|
| label |
Dyskeratosis congenita |
|
| notation |
ORPHA:1775 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_140162 http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_331217 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_183466 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_79373 |
|
| prefixIRI |
ORDO:Orphanet_1775 |
|
| prefLabel |
Dyskeratosis congenita |
|
| present_in |
Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_140162 http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_331217 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_183466 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_79373 |
|
| subClassOf |