MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:3886
Name:Dyskeratosis Congenita, Autosomal Recessive
Definition:
Alternative IDs:OMIM:224230
ParentIDs:MESH:D019871
TreeNumbers:C16.131.831.150/C565611 |C16.320.322.108/C565611 |C16.320.850.235/C565611 |C17.800.804.150/C565611 |C17.800.827.235/C565611
Synonyms:DKCB1 |DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: C565611
MeSH: C565611
OMIM: 224230;
MSeqDR LSDB:  
Genes: DEPDC5; NOP10;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001915Aplastic anemia
3 HP:0005528Bone marrow hypocellularity
4 HP:0000670Carious teeth
5 HP:0009926Epiphora
6 HP:0002043Esophageal stricture
7 HP:0001395Hepatic fibrosis
8 HP:0000953Hyperpigmentation of the skin
9 HP:0001249Intellectual disability
10 HP:0000252Microcephaly
11 HP:0000691Microdontia
12 HP:0002164Nail dysplasia
13 HP:0008404Nail dystrophy
14 HP:0000579Nasolacrimal duct obstruction
15 HP:0002745Oral leukoplakia
16 HP:0000939Osteoporosis
17 HP:0003812Phenotypic variability
18 HP:0002165Pterygium of nails
19 HP:0002206Pulmonary fibrosis
20 HP:0001792Small nail
21 HP:0000653Sparse eyelashes
22 HP:0002209Sparse scalp hair
23 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)55651NHP2Pathogenicrs121908091RCV000004503|RCV000032278|RCV001092140; NMONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN5172025177576716177576716AT5:g.177576716A>TClinGen:CA016078,OMIM:606470.0003C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_017838.4(NHP2):c.415T>C (p.Tyr139His)55651NHP2Pathogenicrs121908089RCV000004501|RCV000032277; NMONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:17755177576761177576761AG5:g.177576761A>GClinGen:CA016069,UniProtKB:Q9NX24#VAR_065872,OMIM:606470.0001C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_017838.4(NHP2):c.376G>A (p.Val126Met)55651NHP2Pathogenicrs121908090RCV000004502|RCV000032276; NMONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:17755177576800177576800CT5:g.177576800C>TClinGen:CA016060,UniProtKB:Q9NX24#VAR_065871,OMIM:606470.0002C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.*184A>G55505NOP10Uncertain significancers113289404RCV001119013; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463398534633985TC15:g.34633985T>C-
NM_018648.4(NOP10):c.*172T>G55505NOP10Uncertain significancers886051058RCV000374342; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463399734633997ACNC_000015.9:g.34633997A>CClinGen:CA10641609CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*132T>G55505NOP10Uncertain significancers995405881RCV001120987; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463403734634037AC15:g.34634037A>C-
NM_018648.4(NOP10):c.*108T>C55505NOP10Uncertain significancers1890481506RCV001120989; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463406134634061AG15:g.34634061A>G-
NM_018648.4(NOP10):c.*80C>T55505NOP10Uncertain significancers983946861RCV001120990; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463408934634089GA15:g.34634089G>A-
NM_018648.4(NOP10):c.*45G>C55505NOP10Benignrs1045238RCV000285526|RCV001683270; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463412434634124CGNC_000015.9:g.34634124C>GClinGen:CA7464747CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*31C>T55505NOP10Benignrs1045204RCV000398103|RCV001613010; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463413834634138GANC_000015.9:g.34634138G>AClinGen:CA7464755CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*30A>G55505NOP10Benignrs1045194RCV000310239|RCV001642980; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463413934634139TCNC_000015.9:g.34634139T>CClinGen:CA7464756CN239315 Dyskeratosis Congenita, Recessive;
NC_000015.10:g.(?_34341948)_(34343093_?)dup55505NOP10Uncertain significance-1RCV001031515; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463414934635294nana-1-
NC_000015.9:g.(?_34634149)_(34635294_?)del55505NOP10Uncertain significance-1RCV001296460; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463414934635294nana-1-
NC_000015.9:g.(?_34634169)_(34635274_?)dup55505NOP10Uncertain significance-1RCV002012334; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463416934635274nana-1-
NC_000015.9:g.(?_34634169)_(35087009_?)dup55505NOP10Uncertain significance-1RCV001937072; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463416935087009nana-1-
NM_018648.4(NOP10):c.179C>T (p.Pro60Leu)55505NOP10Uncertain significancers765367178RCV000541648; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463418534634185GANC_000015.9:g.34634185G>AClinGen:CA7464762C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.165C>T (p.Leu55=)55505NOP10Likely benignrs1338953300RCV000917568|RCV001435432; NMedGen:CN517202|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463419934634199GA15:g.34634199G>A-
NM_018648.4(NOP10):c.156C>G (p.Phe52Leu)55505NOP10Uncertain significance-1RCV001362716; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463420834634208GC34634208-
NM_018648.4(NOP10):c.154T>C (p.Phe52Leu)55505NOP10Uncertain significance-1RCV001967923; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463421034634210AG34634210-
NM_018648.4(NOP10):c.150A>G (p.Lys50=)55505NOP10Likely benign-1RCV001430931; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463421434634214TC34634214-
NM_018648.4(NOP10):c.141dup (p.Ile48fs)55505NOP10Uncertain significancers1890485477RCV001340074; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463422234634223TTG34634222-
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs)55505NOP10Pathogenicrs1595604667RCV000806271; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463422934634242TCGGTGTCGAGAGTGGTG15:g.34634230_34634242del-
NM_018648.4(NOP10):c.127C>G (p.Arg43Gly)55505NOP10Uncertain significancers1890485969RCV001352516; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463423734634237GC34634237-
NM_018648.4(NOP10):c.102G>A (p.Arg34=)55505NOP10Likely benign-1RCV001448685; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463426234634262CT34634262-
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)55505NOP10Pathogenicrs121908092RCV000004500; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463426434634264GA15:g.34634264G>AClinGen:CA020161,UniProtKB:Q9NPE3#VAR_043725,OMIM:606471.0001C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.92A>G (p.His31Arg)55505NOP10Uncertain significance-1RCV001368203; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463427234634272TC34634272-
NM_018648.4(NOP10):c.89C>G (p.Ala30Gly)55505NOP10Uncertain significancers748193565RCV001062894; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463427534634275GC15:g.34634275G>C-
NM_018648.4(NOP10):c.89C>A (p.Ala30Asp)55505NOP10Uncertain significancers748193565RCV001317644; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463427534634275GT34634275-
NM_018648.4(NOP10):c.75A>T (p.Gln25His)55505NOP10Uncertain significance-1RCV001936139; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463428934634289TA34634289-
NM_018648.4(NOP10):c.55-9C>T55505NOP10Conflicting interpretations of pathogenicityrs72720799RCV000538557|RCV001729528|RCV001820934; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202|MedGen:CN169374153463431834634318GANC_000015.9:g.34634318G>AClinGen:CA7464781C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.55-10C>A55505NOP10Benign/Likely benignrs200017156RCV000526147|RCV001755842; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463431934634319GTNC_000015.9:g.34634319G>TClinGen:CA7464782C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.55-11T>C55505NOP10Benign/Likely benignrs141981162RCV000501238|RCV001116064|RCV001764490; NMedGen:CN169374|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463432034634320AGNC_000015.9:g.34634320A>GClinGen:CA7464783CN169374 not specified;
NM_018648.4(NOP10):c.55-15G>C55505NOP10Benignrs422388RCV000254183|RCV000398067|RCV001725151; NMedGen:CN169374|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463432434634324CGNC_000015.9:g.34634324C>GClinGen:CA7464784CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.54+19del55505NOP10Uncertain significance-1RCV001998622; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463520234635202ACA34635201-
NM_018648.4(NOP10):c.51G>C (p.Leu17=)55505NOP10Conflicting interpretations of pathogenicityrs761222362RCV000306780|RCV000866392; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463522434635224CGNC_000015.9:g.34635224C>GClinGen:CA7464811CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.36T>G (p.Asp12Glu)55505NOP10Uncertain significance-1RCV002024627; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463523934635239AC34635239-
NM_018648.4(NOP10):c.34G>C (p.Asp12His)55505NOP10Benign/Likely benignrs146261631RCV000224102|RCV000503008|RCV001084193; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463524134635241CGNC_000015.9:g.34635241C>GClinGen:CA7464815C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.31G>A (p.Gly11Arg)55505NOP10Uncertain significance-1RCV001362680; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463524434635244CT34635244-
NM_018648.4(NOP10):c.27G>T (p.Glu9Asp)55505NOP10Uncertain significancers373678744RCV000798486; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463524834635248CA15:g.34635248C>A-
NM_018648.4(NOP10):c.24C>T (p.Asn8=)55505NOP10Likely benignrs756047969RCV000865303; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463525134635251GA15:g.34635251G>A-
NM_018648.4(NOP10):c.6del (p.Leu3fs)55505NOP10Uncertain significancers756134994RCV000276206; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463526934635269GAGNC_000015.9:g.34635271delClinGen:CA7464822CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.-38C>T55505NOP10Uncertain significancers112556317RCV000331228; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463531234635312GANC_000015.9:g.34635312G>AClinGen:CA7464838CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.-57C>T55505NOP10Uncertain significancers775092898RCV000263141; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463533134635331GANC_000015.9:g.34635331G>AClinGen:CA10646821CN239315 Dyskeratosis Congenita, Recessive;
NC_000015.10:g.34343161T>C55505NOP10Uncertain significancers1890515011RCV001117506; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463536234635362TC15:g.34635362T>C-
NC_000015.10:g.34343174G>C55505NOP10Uncertain significancers1890516145RCV001117507; NMONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463537534635375GC15:g.34635375G>C-
NM_018648.4(NOP10):c.*136T>C-1NOP10;SLC12A6Benign/Likely benignrs3063RCV000335011|RCV000380988|RCV001120986|RCV001707647; NMedGen:CN239315|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463403334634033AGNC_000015.9:g.34634033A>GClinGen:CA10646799C0795950 218000 Andermann syndrome;
NM_018648.4(NOP10):c.*129G>A-1NOP10;SLC12A6Benign/Likely benignrs115413508RCV000295317|RCV000406205|RCV001120988; NMONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496|MedGen:CN239315|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775153463404034634040CTNC_000015.9:g.34634040C>TClinGen:CA10635835C0795950 218000 Andermann syndrome;
NM_018648.4(NOP10):c.*149G>A-1SLC12A6;NOP10Benign/Likely benignrs7173RCV000279987|RCV000328746|RCV001120985|RCV001636895; NMedGen:CN239315|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MedGen:CN517202153463402034634020CTNC_000015.9:g.34634020C>TClinGen:CA10646796C0795950 218000 Andermann syndrome;
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)7015TERTUncertain significancers199422304RCV000022785|RCV000032388|RCV000812473; NMONDO:MONDO:0027353,MedGen:C3151444|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989; MONDO:MONDO:0008345,MedGen:C1800706,OMIM:178500, Orphanet:2032, Orphanet:79126512646611264661GA5:g.1264661G>AClinGen:CA128729,UniProtKB:O14746#VAR_062541,OMIM:187270.0013C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)7015TERTConflicting interpretations of pathogenicityrs199422301RCV000022784|RCV000032383|RCV001041590|RCV001797047|RCV002051796; NMONDO:MONDO:0027353,MedGen:C3151444|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775|MONDO:MONDO:0008345,MedGen:C1800706,OMIM:178500, Orphanet:2032, Orphanet:79126; MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|MedGen:CN517202|MONDO:MONDO:00512712711271271GA5:g.1271271G>AClinGen:CA128727,UniProtKB:O14746#VAR_062540,OMIM:187270.0012C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
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