ORPHA:1775
Dyskeratosis congenita
Synonyms: DC · DKC · Zinsser-Engman-Cole syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyskeratosis congenita | DC · DKC · Zinsser-Engman-Cole syndrome |
| fr | Dyskératose congénitale | DC · DKC · Syndrome de Zinsser-Engman-Cole |
| de | Dyskeratosis congenita | DC · DKC · Zinsser-Engman-Cole-Syndrom |
| es | Disqueratosis congénita | DC · DKC · Síndrome de Zinsser-Engman-Cole |
| it | Discheratosi congenita | DC · DKC · Sindrome di Zinsser-Engman-Cole |
| nl | Dyskeratosis congenita | DC · DKC · Syndroom van Zinsser-Engman-Cole |
| pt | Disqueratose congénita | DQC |
| pl | Dyskeratoza wrodzona | DC · DKC · Zespół Zinssera, Engmana i Cole'a |
| cs | Vrozená dyskeratóza | DC · DKC · Zinsserův-Engmanův-Coleův syndrom · Zinsser-Engman-Coleův syndrom |
| uk | Вроджений дискератоз | DC · DKC · Синдром Зінссера-Енгмана-Коле |
| zh | 先天性角化不良 | Zinsser-Engman-Cole综合征 |
| tr | Diskeratozis konjenita | DC · DKC · Zinsser-Engman-Cole sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127550 | E | validated | |
| OMIM | 224230 | BTNT | validated | |
| OMIM | 305000 | BTNT | validated | |
| OMIM | 613987 | BTNT | validated | |
| OMIM | 613988 | BTNT | validated | |
| OMIM | 613989 | BTNT | validated | |
| OMIM | 613990 | BTNT | validated | |
| OMIM | 615190 | BTNT | validated | |
| OMIM | 616353 | BTNT | validated | |
| OMIM | 616553 | BTNT | validated | |
| OMIM | 620040 | BTNT | validated | |
| OMIM | 620133 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | 3A70.0 | NTBT | index | validated |
| MONDO | 0015780 | E | validated | |
| MeSH | D019871 | E | validated | |
| UMLS | C0265965 | E | validated | |
| GARD | 10905 | E | validated | |
| MedDRA | 10062759 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:717877Rare miscellaneous disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7910 | ENSG00000181163 | 164040 | 5q35.1 | nucleophosmin 1 | 31570891[PMID] |
| ACD | Disease-causing germline mutation(s) in | Assessed | HGNC:25070 | ENSG00000102977 | 609377 | 16q22.1 | ACD shelterin complex subunit and telomerase recruitment factor | 25205116[PMID] |
| CTC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26169 | ENSG00000178971 | 613129 | 17p13.1 | CST telomere replication complex component 1 | 20301779[PMID]_22532422[PMID]_22556055[PMID] |
| DKC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2890 | ENSG00000130826 | 300126 | Xq28 | dyskerin pseudouridine synthase 1 | 20301779[PMID] |
| NHP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14377 | ENSG00000145912 | 606470 | 5q35.3 | NHP2 ribonucleoprotein | 20301779[PMID] |
| NOP10 | Disease-causing germline mutation(s) in | Assessed | HGNC:14378 | ENSG00000182117 | 606471 | 15q14 | NOP10 ribonucleoprotein | 20301779[PMID] |
| PARN | Disease-causing germline mutation(s) in | Assessed | HGNC:8609 | ENSG00000140694 | 604212 | 16p13.12 | poly(A)-specific ribonuclease | 25893599[PMID] |
| RTEL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15888 | ENSG00000258366 | 608833 | 20q13.33 | regulator of telomere elongation helicase 1 | 23453664[PMID] |
| TERC | Disease-causing germline mutation(s) in | Assessed | HGNC:11727 | ENSG00000270141 | 602322 | 3q26.2 | telomerase RNA component | 20301779[PMID] |
| TERT | Disease-causing germline mutation(s) in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 20301779[PMID] |
| TINF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11824 | ENSG00000092330 | 604319 | 14q12 | TERF1 interacting nuclear factor 2 | 20301779[PMID] |
| TYMS | Disease-causing germline mutation(s) in | Assessed | HGNC:12441 | ENSG00000176890 | 188350 | 18p11.32 | thymidylate synthetase | 35931051[PMID] |
| USB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25792 | ENSG00000103005 | 613276 | 16q21 | U6 snRNA biogenesis phosphodiesterase 1 | 20817924[PMID]_22160078[PMID] |
| WRAP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:25522 | ENSG00000141499 | 612661 | 17p13.1 | WD repeat containing antisense to TP53 | 20301779[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
62 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0001903 | Anemia | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0012733 | Macule | |
| HP:0008404 | Nail dystrophy | |
| HP:0002745 | Oral leukoplakia | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0012732 | Anorectal anomaly | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0000670 | Carious teeth | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0010450 | Esophageal stenosis | |
| HP:0001263 | Global developmental delay | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000668 | Hypodontia | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002024 | Malabsorption | |
| HP:0002664 | Neoplasm | |
| HP:0000704 | Periodontitis | |
| HP:0002757 | Recurrent fractures | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0004322 | Short stature | |
| HP:0200042 | Skin ulcer | |
| HP:0008070 | Sparse hair | |
| HP:0000679 | Taurodontia | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0008661 | Urethral stenosis | |
| Occasional (29-5%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0001596 | Alopecia | |
| HP:0010885 | Avascular necrosis | |
| HP:0000498 | Blepharitis | |
| HP:0000518 | Cataract | |
| HP:0002514 | Cerebral calcification | |
| HP:0001394 | Cirrhosis | |
| HP:0000819 | Diabetes mellitus | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0000365 | Hearing impairment | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002665 | Lymphoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0000939 | Osteoporosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002216 | Premature graying of hair | |
| HP:0002650 | Scoliosis | |
| HP:0200037 | Skin vesicle | |
| HP:0001744 | Splenomegaly | |
| HP:0011364 | White hair | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1775
- This record as JSON: /data/d/1775.json