PedAM

Pediatric Disease Annotations & Medicines


	dyskeratosis congenita

Disease ID	42
Disease	dyskeratosis congenita
Definition	A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Synonym	cole-engmann-zinsser syndrome congenita dyskeratosis congenital dyskeratosis dkc dkc - dyskeratosis congenita dyskeratosis congenita (disorder) dyskeratosis congenita [disease/finding] dyskeratosis congenita syndrome dyskeratosis congenital zinsser-cole-engman syndrome zinsser-cole-engmann syndrome zinsser-engman-cole syndrome
Orphanet	ORPHANET:1775
OMIM	OMIM:305000
DOID	DOID:2729
UMLS	C0265965
MeSH	D019871
SNOMED-CT	SNOMEDCT_US_2016_09_01:74911008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0034069 \| pulmonary fibrosis \| 5 C0206062 \| interstitial lung disease \| 2 C0020538 \| hypertension \| 1 C0152026 \| retinal vasculitis \| 1 C0002871 \| anemia \| 1 C0027947 \| neutropenia \| 1 C0345907 \| hepatic angiosarcoma \| 1 C0023890 \| liver cirrhosis \| 1 C0009319 \| colitis \| 1 C0024115 \| lung disease \| 1 C0002453 \| amenorrhea \| 1 C0030312 \| pancytopenia \| 1 C0003857 \| arteriovenous malformation \| 1 C0042384 \| vasculitis \| 1 C0007137 \| squamous cell carcinoma \| 1 C0030312 \| bone marrow failure \| 1 C0020541 \| portal hypertension \| 1 C0002874 \| aplastic anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) ABCB6 \| 10058 \| UniProtKB-KW TINF2 \| 26277 \| CTD_human;ORPHANET;GHR;UniProtKB-KW TERT \| 7015 \| CTD_human;ORPHANET;GHR;UniProtKB-KW RTEL1 \| 51750 \| ORPHANET;GHR;UniProtKB-KW WRAP53 \| 55135 \| ORPHANET;GHR;UniProtKB-KW ACD \| 65057 \| UniProtKB-KW DCLRE1B \| 64858 \| UniProtKB-KW NOP10 \| 55505 \| ORPHANET;GHR;UniProtKB-KW CTC1 \| 80169 \| ORPHANET;GHR PARN \| 5073 \| CLINVAR;ORPHANET;UniProtKB-KW NHP2 \| 55651 \| ORPHANET;GHR;UniProtKB-KW TERC \| 7012 \| CTD_human;ORPHANET GAR1 \| 54433 \| CTD_human DKC1 \| 1736 \| CTD_human;ORPHANET;GHR;UniProtKB-KW USB1 \| 79650 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:93) 10083 \| USH1C \| DISEASES 3861 \| KRT14 \| DISEASES 55612 \| FERMT1 \| DISEASES 79650 \| USB1 \| DISEASES 1440 \| CSF3 \| DISEASES 54433 \| GAR1 \| DISEASES 2745 \| GLRX \| DISEASES 51119 \| SBDS \| DISEASES 10053 \| AP1M2 \| DISEASES 79977 \| GRHL2 \| DISEASES 7014 \| TERF2 \| DISEASES 83990 \| BRIP1 \| DISEASES 10483 \| SEC23B \| DISEASES 1991 \| ELANE \| DISEASES 54464 \| XRN1 \| DISEASES 26277 \| TINF2 \| DISEASES 28987 \| NOB1 \| DISEASES 7157 \| TP53 \| DISEASES 55651 \| NHP2 \| DISEASES 7013 \| TERF1 \| DISEASES 6768 \| ST14 \| DISEASES 3176 \| HNMT \| DISEASES 7508 \| XPC \| DISEASES 1173 \| AP2M1 \| DISEASES 1437 \| CSF2 \| DISEASES 142940 \| TRUB1 \| DISEASES 54386 \| TERF2IP \| DISEASES 861 \| RUNX1 \| DISEASES 9081 \| PRY \| DISEASES 442862 \| PRY2 \| DISEASES 442866 \| PRYP4 \| DISEASES 27087 \| B3GAT1 \| DISEASES 23592 \| LEMD3 \| DISEASES 7015 \| TERT \| DISEASES 947 \| CD34 \| DISEASES 6208 \| RPS14 \| DISEASES 80169 \| CTC1 \| DISEASES 55164 \| SHQ1 \| DISEASES 8607 \| RUVBL1 \| DISEASES 55135 \| WRAP53 \| DISEASES 1237 \| CCR8 \| DISEASES 2187 \| FANCB \| DISEASES 3047 \| HBG1 \| DISEASES 2242 \| FES \| DISEASES 55505 \| NOP10 \| DISEASES 11335 \| CBX3 \| DISEASES 3048 \| HBG2 \| DISEASES 53335 \| BCL11A \| DISEASES 56978 \| PRDM8 \| DISEASES 6731 \| SRP72 \| DISEASES 442865 \| PRYP3 \| DISEASES 8481 \| OFD1 \| DISEASES 2624 \| GATA2 \| DISEASES 5143 \| PDE4C \| DISEASES 122786 \| FRMD6 \| DISEASES 54517 \| PUS7 \| DISEASES 3981 \| LIG4 \| DISEASES 25913 \| POT1 \| DISEASES 4513 \| MT-CO2 \| DISEASES 4548 \| MTR \| DISEASES 10767 \| HBS1L \| DISEASES 1736 \| DKC1 \| DISEASES 64858 \| DCLRE1B \| DISEASES 51750 \| RTEL1 \| DISEASES 2556 \| GABRA3 \| DISEASES 1369 \| CPN1 \| DISEASES 5688 \| PSMA7 \| DISEASES 4352 \| MPL \| DISEASES 26995 \| TRUB2 \| DISEASES 57819 \| LSM2 \| DISEASES 22852 \| ANKRD26 \| DISEASES 80324 \| PUS1 \| DISEASES 2623 \| GATA1 \| DISEASES 5394 \| EXOSC10 \| DISEASES 51360 \| MBTPS2 \| DISEASES 167227 \| DCP2 \| DISEASES 65057 \| ACD \| DISEASES 100134934 \| TEN1 \| DISEASES 1663 \| DDX11 \| DISEASES 5073 \| PARN \| DISEASES 64282 \| PAPD5 \| DISEASES 5985 \| RFC5 \| DISEASES 7499 \| XG \| DISEASES 6229 \| RPS24 \| DISEASES 79813 \| EHMT1 \| DISEASES 1050 \| CEBPA \| DISEASES 56943 \| ENY2 \| DISEASES 56963 \| RGMA \| DISEASES 10856 \| RUVBL2 \| DISEASES 6023 \| RMRP \| DISEASES 677776 \| SCARNA8 \| DISEASES 677817 \| SNORA36A \| DISEASES 7012 \| TERC \| DISEASES
Locus	Symbol \| Locus(Total Locus:11) RTEL1 \| 20q13.33 NOP10 \| 15q14 USB1 \| 16q21 TERT \| 5p15.33 TERC \| 3q26.2 NHP2 \| 5q35.3 WRAP53 \| 17p13.1 PARN \| 16p13.12 CTC1 \| 17p13.1 DKC1 \| Xq28 TINF2 \| 14q12

Disease ID	42
Disease	dyskeratosis congenita
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:62) HP:0000600 \| Abnormality of the pharynx HP:0010885 \| Aseptic necrosis HP:0000534 \| Abnormality of the eyebrow HP:0000499 \| Abnormality of the eyelashes HP:0002514 \| Cerebral calcification HP:0011364 \| White hair HP:0001053 \| Hypopigmented skin patches HP:0012733 \| Macule HP:0001394 \| Cirrhosis HP:0000008 \| Abnormality of female internal genitalia HP:0001874 \| Abnormality of neutrophils HP:0100585 \| Telangiectasia of the skin HP:0100670 \| Rough bone trabeculation HP:0001231 \| Abnormality of the fingernails HP:0002745 \| Oral leukoplakia HP:0000164 \| Abnormality of the teeth HP:0001263 \| Global developmental delay HP:0005528 \| Bone marrow hypocellularity HP:0010450 \| Esophageal stenosis HP:0000670 \| Carious teeth HP:0012732 \| Anorectal anomaly HP:0001596 \| Alopecia HP:0004322 \| Short stature HP:0000498 \| Blepharitis HP:0200037 \| Skin vesicle HP:0001744 \| Splenomegaly HP:0000819 \| Diabetes mellitus HP:0008404 \| Nail dystrophy HP:0008066 \| Abnormal blistering of the skin HP:0200042 \| Skin ulcer HP:0000365 \| Hearing impairment HP:0000704 \| Periodontitis HP:0002240 \| Hepatomegaly HP:0001399 \| Hepatic failure HP:0002664 \| Neoplasm HP:0000939 \| Osteoporosis HP:0000982 \| Palmoplantar keratoderma HP:0000668 \| Hypodontia HP:0001873 \| Thrombocytopenia HP:0010624 \| Aplastic/hypoplastic toenail HP:0000679 \| Taurodontia HP:0000975 \| Hyperhidrosis HP:0008661 \| Urethral stenosis HP:0002894 \| Neoplasm of the pancreas HP:0002024 \| Malabsorption HP:0008070 \| Sparse hair HP:0008065 \| Aplasia/Hypoplasia of the skin HP:0000518 \| Cataract HP:0002205 \| Recurrent respiratory infections HP:0001903 \| Anemia HP:0002665 \| Lymphoma HP:0001511 \| Intrauterine growth retardation HP:0002757 \| Recurrent fractures HP:0002650 \| Scoliosis HP:0002575 \| Tracheoesophageal fistula HP:0002216 \| Premature graying of hair HP:0000035 \| Abnormality of the testis HP:0005374 \| Cellular immunodeficiency HP:0001928 \| Abnormality of coagulation HP:0100627 \| Displacement of the external urethral meatus HP:0000327 \| Hypoplasia of the maxilla HP:0001034 \| Hypermelanotic macule
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0002206 \| Pulmonary fibrosis \| 5 HP:0006530 \| Interstitial lung disease \| 2 HP:0001915 \| Aplastic anemia \| 1 HP:0000822 \| Hypertension \| 1 HP:0000141 \| Abnormal absence of menstruation \| 1 HP:0000786 \| Primary amenorrhea \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0001903 \| Anemia \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0002583 \| Colitis \| 1 HP:0012721 \| Venous malformations \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002633 \| Vasculitis \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0001875 \| Neutropenia \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0005528 \| Bone marrow hypoplasia \| 1 HP:0006548 \| Pulmonary av malformation \| 1

Disease ID	42
Disease	dyskeratosis congenita
Manually Symptom	UMLS \| Name(Total Manually Symptoms:14) C2700513 \| aplastic anemia C2364133 \| infection C1555769 \| pulmonary disease C0870082 \| hyperkeratosis C0748159 \| pulmonary involvement C0221260 \| nail dystrophy C0178879 \| urinary tract obstruction C0032305 \| pneumocystis carinii pneumonia C0030312 \| pancytopenia C0030312 \| bone marrow failure C0029166 \| oral manifestations C0027947 \| neutropenia C0021051 \| immunodeficiency C0002874 \| aplastic anaemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0030312 \| bone marrow failure \| 1 C0027947 \| neutropenia \| 1 C0002874 \| aplastic anemia \| 1 C0030312 \| pancytopenia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912288	12513020	1736	DKC1	umls:C0265965	BeFree	Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene.	0.262036449	2002	DKC1;SNORA56	X	154773152	C	T
rs121912288	22855157	1736	DKC1	umls:C0265965	BeFree	Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.	0.262036449	2012	DKC1;SNORA56	X	154773152	C	T
rs756132866	NA	5073	PARN	umls:C0265965	CLINVAR	NA	0.240542884	NA	PARN	16	14593300	C	A
rs759131762	NA	5073	PARN	umls:C0265965	CLINVAR	NA	0.240542884	NA	PARN	16	14608274	TACT	-
rs786200999	NA	5073	PARN	umls:C0265965	CLINVAR	NA	0.240542884	NA	PARN	16	14582225	G	A
rs786201001	NA	5073	PARN	umls:C0265965	CLINVAR	NA	0.240542884	NA	PARN	16	14593355	-	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000035	Abnormality of the testis	MP:0008297	retention of the adrenal gland x-zone;HP:0002894	Neoplasm of the pancreas

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000365	Hearing impairment	MP:0010465	aberrant origin of the right subclavian artery;HP:0004322	Short stature

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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