MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Dyskeratosis Congenita (D019871)
..Starting node ..Dyskeratosis Congenita, Autosomal Recessive (C565611)
Child Nodes:
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987)
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
Sister Nodes:
..Dyskeratosis Congenita, Autosomal Dominant (C565079)
..Dyskeratosis Congenita, Autosomal Recessive (C565611)
..Hoyeraal Hreidarsson syndrome (C536068)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: DEPDC5; NOP10;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001915	Aplastic anemia
3	HP:0005528	Bone marrow hypocellularity
4	HP:0000670	Carious teeth
5	HP:0009926	Epiphora
6	HP:0002043	Esophageal stricture
7	HP:0001395	Hepatic fibrosis
8	HP:0000953	Hyperpigmentation of the skin
9	HP:0001249	Intellectual disability
10	HP:0000252	Microcephaly
11	HP:0000691	Microdontia
12	HP:0002164	Nail dysplasia
13	HP:0008404	Nail dystrophy
14	HP:0000579	Nasolacrimal duct obstruction
15	HP:0002745	Oral leukoplakia
16	HP:0000939	Osteoporosis
17	HP:0003812	Phenotypic variability
18	HP:0002165	Pterygium of nails
19	HP:0002206	Pulmonary fibrosis
20	HP:0001792	Small nail
21	HP:0000653	Sparse eyelashes
22	HP:0002209	Sparse scalp hair
23	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	55651	NHP2	Pathogenic	rs121908091	RCV000004503\|RCV000032278\|RCV001092140;	N	MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	5	177576716	177576716	A	T	5:g.177576716A>T	ClinGen:CA016078,OMIM:606470.0003	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	55651	NHP2	Pathogenic	rs121908089	RCV000004501\|RCV000032277;	N	MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	5	177576761	177576761	A	G	5:g.177576761A>G	ClinGen:CA016069,UniProtKB:Q9NX24#VAR_065872,OMIM:606470.0001	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_017838.4(NHP2):c.376G>A (p.Val126Met)	55651	NHP2	Pathogenic	rs121908090	RCV000004502\|RCV000032276;	N	MONDO:MONDO:0013519,MedGen:C3151441,OMIM:613987, Orphanet:1775\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	5	177576800	177576800	C	T	5:g.177576800C>T	ClinGen:CA016060,UniProtKB:Q9NX24#VAR_065871,OMIM:606470.0002	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.*184A>G	55505	NOP10	Uncertain significance	rs113289404	RCV001119013;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34633985	34633985	T	C	15:g.34633985T>C	-
NM_018648.4(NOP10):c.*172T>G	55505	NOP10	Uncertain significance	rs886051058	RCV000374342;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34633997	34633997	A	C	NC_000015.9:g.34633997A>C	ClinGen:CA10641609	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*132T>G	55505	NOP10	Uncertain significance	rs995405881	RCV001120987;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634037	34634037	A	C	15:g.34634037A>C	-
NM_018648.4(NOP10):c.*108T>C	55505	NOP10	Uncertain significance	rs1890481506	RCV001120989;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634061	34634061	A	G	15:g.34634061A>G	-
NM_018648.4(NOP10):c.*80C>T	55505	NOP10	Uncertain significance	rs983946861	RCV001120990;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634089	34634089	G	A	15:g.34634089G>A	-
NM_018648.4(NOP10):c.*45G>C	55505	NOP10	Benign	rs1045238	RCV000285526\|RCV001683270;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634124	34634124	C	G	NC_000015.9:g.34634124C>G	ClinGen:CA7464747	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*31C>T	55505	NOP10	Benign	rs1045204	RCV000398103\|RCV001613010;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634138	34634138	G	A	NC_000015.9:g.34634138G>A	ClinGen:CA7464755	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.*30A>G	55505	NOP10	Benign	rs1045194	RCV000310239\|RCV001642980;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634139	34634139	T	C	NC_000015.9:g.34634139T>C	ClinGen:CA7464756	CN239315 Dyskeratosis Congenita, Recessive;
NC_000015.10:g.(?_34341948)_(34343093_?)dup	55505	NOP10	Uncertain significance	-1	RCV001031515;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634149	34635294	na	na	-1	-
NC_000015.9:g.(?_34634149)_(34635294_?)del	55505	NOP10	Uncertain significance	-1	RCV001296460;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634149	34635294	na	na	-1	-
NC_000015.9:g.(?_34634169)_(34635274_?)dup	55505	NOP10	Uncertain significance	-1	RCV002012334;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634169	34635274	na	na	-1	-
NC_000015.9:g.(?_34634169)_(35087009_?)dup	55505	NOP10	Uncertain significance	-1	RCV001937072;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634169	35087009	na	na	-1	-
NM_018648.4(NOP10):c.179C>T (p.Pro60Leu)	55505	NOP10	Uncertain significance	rs765367178	RCV000541648;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634185	34634185	G	A	NC_000015.9:g.34634185G>A	ClinGen:CA7464762	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.165C>T (p.Leu55=)	55505	NOP10	Likely benign	rs1338953300	RCV000917568\|RCV001435432;	N	MedGen:CN517202\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634199	34634199	G	A	15:g.34634199G>A	-
NM_018648.4(NOP10):c.156C>G (p.Phe52Leu)	55505	NOP10	Uncertain significance	-1	RCV001362716;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634208	34634208	G	C	34634208	-
NM_018648.4(NOP10):c.154T>C (p.Phe52Leu)	55505	NOP10	Uncertain significance	-1	RCV001967923;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634210	34634210	A	G	34634210	-
NM_018648.4(NOP10):c.150A>G (p.Lys50=)	55505	NOP10	Likely benign	-1	RCV001430931;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634214	34634214	T	C	34634214	-
NM_018648.4(NOP10):c.141dup (p.Ile48fs)	55505	NOP10	Uncertain significance	rs1890485477	RCV001340074;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634222	34634223	T	TG	34634222	-
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs)	55505	NOP10	Pathogenic	rs1595604667	RCV000806271;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634229	34634242	TCGGTGTCGAGAGT	GGTG	15:g.34634230_34634242del	-
NM_018648.4(NOP10):c.127C>G (p.Arg43Gly)	55505	NOP10	Uncertain significance	rs1890485969	RCV001352516;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634237	34634237	G	C	34634237	-
NM_018648.4(NOP10):c.102G>A (p.Arg34=)	55505	NOP10	Likely benign	-1	RCV001448685;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634262	34634262	C	T	34634262	-
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)	55505	NOP10	Pathogenic	rs121908092	RCV000004500;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634264	34634264	G	A	15:g.34634264G>A	ClinGen:CA020161,UniProtKB:Q9NPE3#VAR_043725,OMIM:606471.0001	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.92A>G (p.His31Arg)	55505	NOP10	Uncertain significance	-1	RCV001368203;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634272	34634272	T	C	34634272	-
NM_018648.4(NOP10):c.89C>G (p.Ala30Gly)	55505	NOP10	Uncertain significance	rs748193565	RCV001062894;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634275	34634275	G	C	15:g.34634275G>C	-
NM_018648.4(NOP10):c.89C>A (p.Ala30Asp)	55505	NOP10	Uncertain significance	rs748193565	RCV001317644;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634275	34634275	G	T	34634275	-
NM_018648.4(NOP10):c.75A>T (p.Gln25His)	55505	NOP10	Uncertain significance	-1	RCV001936139;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634289	34634289	T	A	34634289	-
NM_018648.4(NOP10):c.55-9C>T	55505	NOP10	Conflicting interpretations of pathogenicity	rs72720799	RCV000538557\|RCV001729528\|RCV001820934;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202\|MedGen:CN169374	15	34634318	34634318	G	A	NC_000015.9:g.34634318G>A	ClinGen:CA7464781	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.55-10C>A	55505	NOP10	Benign/Likely benign	rs200017156	RCV000526147\|RCV001755842;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634319	34634319	G	T	NC_000015.9:g.34634319G>T	ClinGen:CA7464782	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.55-11T>C	55505	NOP10	Benign/Likely benign	rs141981162	RCV000501238\|RCV001116064\|RCV001764490;	N	MedGen:CN169374\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634320	34634320	A	G	NC_000015.9:g.34634320A>G	ClinGen:CA7464783	CN169374 not specified;
NM_018648.4(NOP10):c.55-15G>C	55505	NOP10	Benign	rs422388	RCV000254183\|RCV000398067\|RCV001725151;	N	MedGen:CN169374\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634324	34634324	C	G	NC_000015.9:g.34634324C>G	ClinGen:CA7464784	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.54+19del	55505	NOP10	Uncertain significance	-1	RCV001998622;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635202	34635202	AC	A	34635201	-
NM_018648.4(NOP10):c.51G>C (p.Leu17=)	55505	NOP10	Conflicting interpretations of pathogenicity	rs761222362	RCV000306780\|RCV000866392;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34635224	34635224	C	G	NC_000015.9:g.34635224C>G	ClinGen:CA7464811	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.36T>G (p.Asp12Glu)	55505	NOP10	Uncertain significance	-1	RCV002024627;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635239	34635239	A	C	34635239	-
NM_018648.4(NOP10):c.34G>C (p.Asp12His)	55505	NOP10	Benign/Likely benign	rs146261631	RCV000224102\|RCV000503008\|RCV001084193;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635241	34635241	C	G	NC_000015.9:g.34635241C>G	ClinGen:CA7464815	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_018648.4(NOP10):c.31G>A (p.Gly11Arg)	55505	NOP10	Uncertain significance	-1	RCV001362680;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635244	34635244	C	T	34635244	-
NM_018648.4(NOP10):c.27G>T (p.Glu9Asp)	55505	NOP10	Uncertain significance	rs373678744	RCV000798486;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635248	34635248	C	A	15:g.34635248C>A	-
NM_018648.4(NOP10):c.24C>T (p.Asn8=)	55505	NOP10	Likely benign	rs756047969	RCV000865303;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635251	34635251	G	A	15:g.34635251G>A	-
NM_018648.4(NOP10):c.6del (p.Leu3fs)	55505	NOP10	Uncertain significance	rs756134994	RCV000276206;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635269	34635269	GA	G	NC_000015.9:g.34635271del	ClinGen:CA7464822	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.-38C>T	55505	NOP10	Uncertain significance	rs112556317	RCV000331228;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635312	34635312	G	A	NC_000015.9:g.34635312G>A	ClinGen:CA7464838	CN239315 Dyskeratosis Congenita, Recessive;
NM_018648.4(NOP10):c.-57C>T	55505	NOP10	Uncertain significance	rs775092898	RCV000263141;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635331	34635331	G	A	NC_000015.9:g.34635331G>A	ClinGen:CA10646821	CN239315 Dyskeratosis Congenita, Recessive;
NC_000015.10:g.34343161T>C	55505	NOP10	Uncertain significance	rs1890515011	RCV001117506;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635362	34635362	T	C	15:g.34635362T>C	-
NC_000015.10:g.34343174G>C	55505	NOP10	Uncertain significance	rs1890516145	RCV001117507;	N	MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34635375	34635375	G	C	15:g.34635375G>C	-
NM_018648.4(NOP10):c.*136T>C	-1	NOP10;SLC12A6	Benign/Likely benign	rs3063	RCV000335011\|RCV000380988\|RCV001120986\|RCV001707647;	N	MedGen:CN239315\|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634033	34634033	A	G	NC_000015.9:g.34634033A>G	ClinGen:CA10646799	C0795950 218000 Andermann syndrome;
NM_018648.4(NOP10):c.*129G>A	-1	NOP10;SLC12A6	Benign/Likely benign	rs115413508	RCV000295317\|RCV000406205\|RCV001120988;	N	MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496\|MedGen:CN239315\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775	15	34634040	34634040	C	T	NC_000015.9:g.34634040C>T	ClinGen:CA10635835	C0795950 218000 Andermann syndrome;
NM_018648.4(NOP10):c.*149G>A	-1	SLC12A6;NOP10	Benign/Likely benign	rs7173	RCV000279987\|RCV000328746\|RCV001120985\|RCV001636895;	N	MedGen:CN239315\|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000, Orphanet:1496\|MONDO:MONDO:0009136,MedGen:C1857144,OMIM:224230, Orphanet:1775\|MedGen:CN517202	15	34634020	34634020	C	T	NC_000015.9:g.34634020C>T	ClinGen:CA10646796	C0795950 218000 Andermann syndrome;
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	7015	TERT	Uncertain significance	rs199422304	RCV000022785\|RCV000032388\|RCV000812473;	N	MONDO: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:79126	5	1264661	1264661	G	A	5:g.1264661G>A	ClinGen:CA128729,UniProtKB:O14746#VAR_062541,OMIM:187270.0013	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	7015	TERT	Conflicting interpretations of pathogenicity	rs199422301	RCV000022784\|RCV000032383\|RCV001041590\|RCV001797047\|RCV002051796;	N	MONDO: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:00	5	1271271	1271271	G	A	5:g.1271271G>A	ClinGen:CA128727,UniProtKB:O14746#VAR_062540,OMIM:187270.0012	C1857144 224230 Dyskeratosis congenita autosomal recessive 1;

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