Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia 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.



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Narrow down the case reports



Total: 178 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
10
(34.1%)		 6710212
 Dyskeratosis congenita with pancytopenia and horseshoe kidney.
Ross SR, Keeling RP, Gingold MP, Pinkerton JV.
South Med J. 1984;77(4):527-8.
Horseshoe kidney Anemia Nail dystrophy
Differential Diagnosis Ectodermal Dysplasia Fanconi Syndrome Homo sapiens Kidney Male Nail Diseases Pancytopenia Pigmentation Disorders
12
(32.0%)		 24914498
 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.
Gene. 2014;546(2):425-9.
Microcephaly Petechiae
DKC1
c|SUB|C|146|T;RS#:121912304 rs121912304
Adult Cell Cycle Proteins Child, Preschool DNA Mutational Analysis Differential Diagnosis Dyskeratosis Congenita Exome Fetal Growth Retardation Homo sapiens Infant Intellectual Disability Male Microcephaly Missense Mutation Nuclear Proteins
12
(32.0%)		 18455938
 Retinal hemorrhages in a patient with dyskeratosis congenita.
Nazir S, Sayani N, Phillips PH.
J AAPOS. 2008;12(4):415-7.
Blepharitis Conjunctivitis Retinal hemorrhage Premature graying of hair
Blood Transfusion Dyskeratosis Congenita Follow-Up Studies Homo sapiens Male Retinal Hemorrhage Visual Acuity Young Adult
12
(32.0%)		 16681244
 Interdisciplinary approach to treat dyskeratosis congenita associated with severe aplastic anemia: a case report.
Fernandes Gomes M, Pinheiro de Abreu P, de Freitas Banzi C, de Oliveira Nogueira T.
Spec Care Dentist. 2006;26(2):81-4.
Dry skin Petechiae
Aplastic Anemia Child, Preschool Dental Care for Children Dental Care for Chronically Ill Dental Hygiene Dental Restoration, Permanent Dyskeratosis Congenita Homo sapiens Male Periodontal Diseases Severity of Illness Index
12
(32.0%)		 8160728
 Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs.
Kajtar P, Mehes K.
Am J Med Genet. 1994;49(4):374-7.
Retinopathy Purpura
Aplastic Anemia Child, Preschool Chromosome Aberrations Females Hair Diseases Homo sapiens Keratosis Leukoplakia Retinal Diseases Syndrome
16
(31.6%)		 24136024
 Dyskeratosis congenita complicated by hepatic fibrosis with hepatic vein thrombosis.
Yoshida H, Imamura T, Sakamoto K, Asai D, Nakatani T, Morimoto A, Hosoi H.
J Pediatr Hematol Oncol. 2014;36(4):308-11.
Cirrhosis Hepatic vein thrombosis
Budd-Chiari Syndrome Child Child, Preschool Dyskeratosis Congenita Homo sapiens Liver Cirrhosis Male Sibling
16
(31.6%)		 21755768
 Dyskeratosis congenita with portal hypertension of unknown etiology.
Redkar NN, Pandey DB, Jerajani HR, Padhiyar R, Dhokare A.
J Assoc Physicians India. 2011;59:260-3.
Cirrhosis Pancytopenia
Adult Biopsy Dyskeratosis Congenita Homo sapiens Leukoplakia, Oral Liver Male Nail Diseases Pancytopenia Portal Hypertension Skin Ultrasonography
16
(31.6%)		 9729062
 Dyskeratosis congenita associated with Hodgkin's disease.
Baykal C, Buyukbabani N, Kavak A.
Eur J Dermatol. 1998;8(6):385-7.
Pancytopenia Chronic hepatitis
Adult Antineoplastic Combined Chemotherapy Protocols Combined Modality Therapy Dyskeratosis Congenita Follow-Up Studies Hepatitis B, Chronic Hodgkin Disease Homo sapiens Male
19
(31.4%)		 8741326
 Dyskeratosis congenita: unusual onset with isolated neutropenia at an early age.
Yel L, Tezcan I, Sanal O, Ersoy F, Berkel AI.
Acta Paediatr Jpn. 1996;38(3):288-90.
Thrombocytopenia Neutropenia Anemia
CSF3
Child, Preschool Dose-Response Relationship, Drug Drug Administration Schedule Ectodermal Dysplasia Follow-Up Studies Granulocyte Colony-Stimulating Factor Homo sapiens Infant Male Neutropenia
20
(29.5%)		 12513020
 DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.
Lin JH, Lee JY, Tsao CJ, Chao SC.
Kaohsiung J Med Sci. 2002;18(11):573-7.
Pancytopenia Enterocolitis Progressive reticulate hyperpigmentation
DKC1
c|SUB|C|1058|T;RS#:121912288 p|SUB|A|353|V;RS#:121912288
Adult Cell Cycle Proteins Chromosomes, Human, X Dyskeratosis Congenita Homo sapiens Male Mutation Nuclear Proteins
        

Phenotype(s) retrieved from Orphanet

    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%)


Phenotype(s) retrieved from case reports

    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


Causative gene(s) retrieved from Orphanet

    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