| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.9%) |
12679652 |
Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin. Erduran E, Hacisalihoglu S, Ozoran Y. J Pediatr Hematol Oncol. 2003;25(4):333-5. |
| Hepatosplenomegaly Anemia | ||
| CSF2 EPO | ||
| Blood Cell Count Bone Marrow Child, Preschool Dyskeratosis Congenita Erythropoietin Ferritin Granulocyte-Macrophage Colony-Stimulating Factor Homo sapiens Male Pancytopenia Respiratory Tract Infections | ||
| 2 (46.2%) |
25780486 (4356098) |
A case report on a rare disease: dyskeratosis congenita. Shiferaw B, Mukka S, Ha L, Bekele E, Ramos De Oleo R. J Clin Med Res. 2015;7(5):361-3. |
| Splenomegaly Leukemia Fever Hepatitis | ||
| 3 (40.4%) |
6601257 |
Dyskeratosis congenita: two examples of this multisystem disorder. Womer R, Clark JE, Wood P, Sabio H, Kelly TE. Pediatrics. 1983;71(4):603-9. |
| Anemia Gastrointestinal hemorrhage Reticular hyperpigmentation | ||
| Aplastic Anemia Bone Diseases Females Gastrointestinal Hemorrhage Homo sapiens Immunoglobulins Intellectual Disability Leukoplakia, Oral Male Nail Diseases Pancytopenia Pigmentation Disorders Syndrome X Chromosome | ||
| 4 (40.0%) |
2166977 |
Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. Kawaguchi K, Sakamaki H, Onozawa Y, Koike M. Virchows Arch A Pathol Anat Histopathol. 1990;417(3):247-53. |
| Portal hypertension Splenomegaly Thrombocytopenia | ||
| Adult Homo sapiens Leukoplakia Male Mucinous Adenocarcinoma Pigmentation Disorders Portal Hypertension Rectal Neoplasms Syndrome | ||
| 5 (39.3%) |
3287258 |
Dyskeratosis congenita: report of a case and review of the literature. Ogden GR, Connor E, Chisholm DM. Oral Surg Oral Med Oral Pathol. 1988;65(5):586-91. |
| Pancytopenia Anemia Dysphagia Nail dystrophy | ||
| Child Differential Diagnosis Homo sapiens Leukoplakia, Oral Male Nail Diseases Pigmentation Disorders Syndrome Tongue Neoplasms | ||
| 6 (39.1%) |
8014052 |
[Dyskeratosis congenita in monozygous twins]. Burkhardt D, Schirren CG, Schuffenhauer S, Ullmann S, Schirren H. Hautarzt. 1994;45(4):249-55. |
| Splenomegaly Pancytopenia | ||
| Differential Diagnosis Diseases in Twins Genes, Recessive Homo sapiens Keratosis Leukoplakia, Oral Male Nails, Malformed Sex Chromosome Aberrations Syndrome X Chromosome | ||
| 7 (38.2%) |
19852575 |
Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. Johnson CA, Hatfield M, Pulido JS. Ophthalmic Genet. 2009;30(4):181-4. |
| Retinal hemorrhage Edema Telangiectasia | ||
| Adult Anticipation, Genetic Dyskeratosis Congenita Females Fluorescein Angiography Genes, Dominant Homo sapiens Ischemia Male Middle Aged Retinal Hemorrhage Tomography, Optical Coherence Young Adult | ||
| 8 (35.6%) |
8420755 |
Gastrointestinal involvement in a woman with dyskeratosis congenita. Brown KE, Kelly TE, Myers BM. Dig Dis Sci. 1993;38(1):181-4. |
| Portal hypertension Ascites Pancytopenia | ||
| Adult Females Gastrointestinal Diseases Homo sapiens Liver Pigmentation Disorders Portal Hypertension | ||
| 9 (34.8%) |
28407835 |
[Recurrent pulmonary infection and oral mucosal ulcer]. Kuang FM, Tang LL, Zhang H, Xie M, Yang MH, Yang LC, Yu Y, Cao LZ. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19(4):452-457. |
| Vitiligo Fever Agranulocytosis | ||
| RTEL1 | ||
| Child Dyskeratosis Congenita Females Homo sapiens Mouth Diseases Respiratory Tract Infections Ulcer | ||
| 10 (34.1%) |
6894487 |
Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. De Boeck K, Degreef H, Verwilghen R, Corbeel L, Casteels-Van Daele M. Pediatrics. 1981;67(6):898-903. |
| Thrombocytopenia Anemia Nail dystrophy | ||
| Child Child, Preschool Ectodermal Dysplasia Hemodynamics Homo sapiens Leukoplakia Male Nail Diseases Pigmentation Disorders Thrombocytopenia |
Total: 62
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001034 | Hypermelanotic macule | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
| HP:0001874 | Abnormality of neutrophils | Very frequent (99-80%) |
| HP:0001903 | Anemia | Very frequent (99-80%) |
| HP:0002745 | Oral leukoplakia | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0008404 | Nail dystrophy | Very frequent (99-80%) |
| HP:0012733 | Macule | Very frequent (99-80%) |
| HP:0000008 | Abnormality of female internal genitalia | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000600 | Abnormality of the pharynx | Frequent (79-30%) |
| HP:0000668 | Hypodontia | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0000679 | Taurodontia | Frequent (79-30%) |
| HP:0000704 | Periodontitis | Frequent (79-30%) |
| HP:0000975 | Hyperhidrosis | Frequent (79-30%) |
| HP:0001053 | Hypopigmented skin patches | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001928 | Abnormality of coagulation | Frequent (79-30%) |
| HP:0002024 | Malabsorption | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002575 | Tracheoesophageal fistula | Frequent (79-30%) |
| HP:0002664 | Neoplasm | Frequent (79-30%) |
| HP:0002757 | Recurrent fractures | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005374 | Cellular immunodeficiency | Frequent (79-30%) |
| HP:0005528 | Bone marrow hypocellularity | Frequent (79-30%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Frequent (79-30%) |
| HP:0008070 | Sparse hair | Frequent (79-30%) |
| HP:0008661 | Urethral stenosis | Frequent (79-30%) |
| HP:0010450 | Esophageal stenosis | Frequent (79-30%) |
| HP:0010624 | Aplastic/hypoplastic toenail | Frequent (79-30%) |
| HP:0012732 | Anorectal anomaly | Frequent (79-30%) |
| HP:0100585 | Telangiectasia of the skin | Frequent (79-30%) |
| HP:0100670 | Rough bone trabeculation | Frequent (79-30%) |
| HP:0200042 | Skin ulcer | Frequent (79-30%) |
| HP:0000035 | Abnormal testis morphology | Occasional (29-5%) |
| HP:0000327 | Hypoplasia of the maxilla | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000499 | Abnormal eyelash morphology | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000534 | Abnormal eyebrow morphology | Occasional (29-5%) |
| HP:0000819 | Diabetes mellitus | Occasional (29-5%) |
| HP:0000939 | Osteoporosis | Occasional (29-5%) |
| HP:0000982 | Palmoplantar keratoderma | Occasional (29-5%) |
| HP:0001394 | Cirrhosis | Occasional (29-5%) |
| HP:0001399 | Hepatic failure | Occasional (29-5%) |
| HP:0001596 | Alopecia | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0002216 | Premature graying of hair | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002894 | Neoplasm of the pancreas | Occasional (29-5%) |
| HP:0010885 | Avascular necrosis | Occasional (29-5%) |
| HP:0011364 | White hair | Occasional (29-5%) |
| HP:0100627 | Displacement of the urethral meatus | Occasional (29-5%) |
| HP:0200037 | Skin vesicle | Occasional (29-5%) |
Total: 63
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008404 | Nail dystrophy | 28 |
| HP:0001876 | Pancytopenia | 15 |
| HP:0002745 | Oral leukoplakia | 11 |
| HP:0001873 | Thrombocytopenia | 6 |
| HP:0002206 | Pulmonary fibrosis | 5 |
| HP:0002721 | Immunodeficiency | 4 |
| HP:0007898 | Exudative retinopathy | 4 |
| HP:0000488 | Retinopathy | 3 |
| HP:0001409 | Portal hypertension | 3 |
| HP:0001875 | Neutropenia | 3 |
| HP:0002015 | Dysphagia | 3 |
| HP:0030731 | Carcinoma | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0001321 | Cerebellar hypoplasia | 2 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0007902 | Vitreous hemorrhage | 2 |
| HP:0009926 | Epiphora | 2 |
| HP:0000016 | Urinary retention | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000166 | Severe periodontitis | 1 |
| HP:0000230 | Gingivitis | 1 |
| HP:0000465 | Webbed neck | 1 |
| HP:0000498 | Blepharitis | 1 |
| HP:0000509 | Conjunctivitis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000573 | Retinal hemorrhage | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0000962 | Hyperkeratosis | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001029 | Poikiloderma | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001810 | Dystrophic toenail | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0001980 | Megaloblastic bone marrow | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002107 | Pneumothorax | 1 |
| HP:0002164 | Nail dysplasia | 1 |
| HP:0002352 | Leukoencephalopathy | 1 |
| HP:0002573 | Hematochezia | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0004334 | Dermal atrophy | 1 |
| HP:0004859 | Amegakaryocytic thrombocytopenia | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0005595 | Generalized hyperkeratosis | 1 |
| HP:0007427 | Reticulated skin pigmentation | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0011946 | Bronchiolitis obliterans | 1 |
| HP:0012733 | Macule | 1 |
| HP:0012841 | Retinal vascular tortuosity | 1 |
| HP:0020073 | Hypopigmented macule | 1 |
| HP:0032107 | Limbal stem cell deficiency | 1 |
| HP:0032118 | Retinitis | 1 |
| HP:0100583 | Corneal perforation | 1 |
Total: 11
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| DKC1 | dyskerin pseudouridine synthase 1 | 1736 |
| TERT | telomerase reverse transcriptase | 7015 |
| TERC | telomerase RNA component | 7012 |
| TINF2 | TERF1 interacting nuclear factor 2 | 26277 |
| NOP10 | NOP10 ribonucleoprotein | 55505 |
| NHP2 | NHP2 ribonucleoprotein | 55651 |
| USB1 | U6 snRNA biogenesis phosphodiesterase 1 | 79650 |
| WRAP53 | WD repeat containing antisense to TP53 | 55135 |
| CTC1 | CST telomere replication complex component 1 | 80169 |
| RTEL1 | regulator of telomere elongation helicase 1 | 51750 |
| PARN | poly(A)-specific ribonuclease | 5073 |