Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
lungs liver mucous membranes hematopoietic system |
| gptkbp:causedBy |
telomere dysfunction
|
| gptkbp:complication |
gptkb:liver_disease
gptkb:acute_myeloid_leukemia aplastic anemia myelodysplastic syndrome pulmonary fibrosis solid tumors |
| gptkbp:firstDescribed |
1906
|
| gptkbp:hasGeneticInheritance |
autosomal dominant
X-linked recessive autosomal recessive |
| gptkbp:hasOrphanetID |
177
|
| https://www.w3.org/2000/01/rdf-schema#label |
dyskeratosis congenita
|
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:mutationAssociatedWith |
gptkb:TERC
gptkb:TERT gptkb:ACD NHP2 NOP10 CTC1 DCLRE1B DKC1 NOLA1 NOLA2 NOLA3 PARN RTEL1 STN1 TINF2 WRAP53 ZCCHC8 |
| gptkbp:namedAfter |
gptkb:Cole
Engman Zinsser |
| gptkbp:OMIM |
127550
|
| gptkbp:prevalence |
<1 per 1,000,000
|
| gptkbp:symptom |
pulmonary fibrosis
increased cancer risk bone marrow failure nail dystrophy oral leukoplakia reticular skin pigmentation |
| gptkbp:synonym |
Zinsser-Engman-Cole syndrome
|
| gptkbp:treatment |
supportive care
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:telomerase_complex
gptkb:Telomerase |
| gptkbp:bfsLayer |
7
|