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: Acidosis, Renal Tubular (D000141)
Parent Node: Osteopetrosis (D010022)
Parent Node: Urea Cycle Disorders, Inborn (D056806)
..Starting node ..Osteopetrosis with renal tubular acidosis (C536058)
Child Nodes:
Sister Nodes:
..3-methylcrotonyl CoA carboxylase 1 deficiency (C535308)
..3-methylcrotonyl CoA carboxylase 2 deficiency (C535309)
..Argininosuccinic Aciduria (D056807)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
..Citrulline transport defect (C536207)
..Citrullinemia (D020159) 3 C:2
..HHH syndrome (C538380) L: 00106;
..Hyperargininemia (D020162)
..N-acetyl glutamate synthetase deficiency (C536109)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Osteopetrosis with renal tubular acidosis (C536058)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9316

Name:

Osteopetrosis with renal tubular acidosis

Definition:

Alternative IDs:

OMIM:259730

ParentIDs:

MESH:D000141|MESH:D010022|MESH:D056806

TreeNumbers:

C05.116.099.708.702.678/C536058 |C10.228.140.163.100.937/C536058 |C12.777.419.815.093/C536058 |C13.351.968.419.815.093/C536058 |C16.320.565.100.940/C536058 |C16.320.565.189.937/C536058 |C16.320.565.861.093/C536058 |C18.452.076.176.210/C536058 |C18.452.132.100.93

Synonyms:

Slim Mappings:

Reference:

MedGen: C536058
MeSH: C536058
OMIM: 259730;
MSeqDR :
Genes: CA2; RRM2B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia
3	HP:0002135	Basal ganglia calcification
4	HP:0004437	Cranial hyperostosis
5	HP:0000689	Dental malocclusion
6	HP:0003034	Diaphyseal sclerosis
7	HP:0008341	Distal renal tubular acidosis
8	HP:0003148	Elevated serum acid phosphatase
9	HP:0001978	Extramedullary hematopoiesis
10	HP:0001433	Hepatosplenomegaly
11	HP:0001249	Intellectual disability
12	HP:0007807	Optic nerve compression
13	HP:0011002	Osteopetrosis
14	HP:0008153	Periodic hypokalemic paresis
15	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
16	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000067.2(CA2):c.-181A>T	760	CA2	Benign	11261477	RCV000363093\|RCV001692090;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86376130	86376130	8:g.86376130A>T	ClinGen:CA10654727	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.2(CA2):c.-176C>T	760	CA2	Uncertain significance	886063146	RCV000401229;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376135	86376135	8:g.86376135C>T	ClinGen:CA10628350	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.2(CA2):c.-138G>A	760	CA2	Uncertain significance	557422827	RCV000299313;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376173	86376173	8:g.86376173G>A	ClinGen:CA10628352	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.2(CA2):c.-130C>A	760	CA2	Uncertain significance	570970117	RCV000356455;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376181	86376181	8:g.86376181C>A	ClinGen:CA10625859	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.2(CA2):c.-84_-82dup	760	CA2	Uncertain significance	886063147	RCV000259639;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376226	86376227	NC_000008.10:g.86376227_86376229dup	ClinGen:CA10625860	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.-53G>T	760	CA2	Uncertain significance	886063148	RCV000317269;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376258	86376258	NC_000008.10:g.86376258G>T	ClinGen:CA10631592	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.-43G>C	760	CA2	Uncertain significance	556311734	RCV001163653;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376268	86376268	8:g.86376268G>C	-
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)	760	CA2	Pathogenic	1554709677	RCV000625902;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86376331	86376331	8:g.86376331C>A	ClinGen:CA371423059	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.40G>A (p.Glu14Lys)	760	CA2	Uncertain significance	758659684	RCV000369624\|RCV003168571;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MeSH:D030342,MedGen:C0950123	8	86377506	86377506	NC_000008.10:g.86377506G>A	ClinGen:CA10631645	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.74G>A (p.Gly25Glu)	760	CA2	Uncertain significance	1811610973	RCV001163654;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86377540	86377540	8:g.86377540G>A	-
NM_000067.3(CA2):c.87C>T (p.Ser29=)	760	CA2	Uncertain significance	777914836	RCV001163960;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86377553	86377553	8:g.86377553C>T	-
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)	760	CA2	Pathogenic	118203934	RCV000000967;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86377586	86377586	8:g.86377586T>G	ClinGen:CA114626,OMIM:611492.0007	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.143_146del (p.Ser48fs)	760	CA2	Conflicting interpretations of pathogenicity	1564077060	RCV000779563\|RCV001869146;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:CN517202	8	86377605	86377608	NC_000008.10:g.86377605CTGT[1]	-
NM_000067.3(CA2):c.139C>T (p.Leu47=)	760	CA2	Likely benign	145096347	RCV000981810\|RCV002503132;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86377605	86377605	8:g.86377605C>T	-
NM_000067.3(CA2):c.192T>C (p.His64=)	760	CA2	Uncertain significance	759693878	RCV001163961;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86377658	86377658	8:g.86377658T>C	-
NM_000067.3(CA2):c.232+1G>A	760	CA2	Pathogenic	573750741	RCV000373455\|RCV000726247;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86377699	86377699	8:g.86377699G>A	ClinGen:CA4796434,OMIM:611492.0006	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)	760	CA2	Likely pathogenic	1304160279	RCV001250415;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86385964	86385964	8:g.86385964A>C	-
NM_000067.3(CA2):c.281A>G (p.His94Arg)	760	CA2	Uncertain significance	2130558149	RCV001977965\|RCV002492204;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86385970	86385970	86385970	-
NM_000067.3(CA2):c.311G>T (p.Gly104Val)	760	CA2	Uncertain significance	760867064	RCV001332156;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86386000	86386000	86386000	-
NM_000067.3(CA2):c.319C>T (p.His107Tyr)	760	CA2	Pathogenic	118203933	RCV000000964;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86386008	86386008	8:g.86386008C>T	ClinGen:CA114625,UniProtKB:P00918#VAR_001382,OMIM:611492.0004	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.339A>G (p.Lys113=)	760	CA2	Conflicting interpretations of pathogenicity	370128128	RCV002025080\|RCV002492229;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86386028	86386028	86386028	-
NM_000067.3(CA2):c.444+18T>G	760	CA2	Likely benign	544980486	RCV002194062\|RCV002496117;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86386663	86386663	86386663	-
NM_000067.3(CA2):c.453C>T (p.Ser151=)	760	CA2	Likely benign	189189209	RCV002178006\|RCV002494074;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86388035	86388035	86388035	-
NM_000067.3(CA2):c.462G>A (p.Pro154=)	760	CA2	Conflicting interpretations of pathogenicity	140623407	RCV001163962\|RCV002067997;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:CN517202	8	86388044	86388044	8:g.86388044G>A	-
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)	760	CA2	Conflicting interpretations of pathogenicity	145667849	RCV001163963\|RCV003117794;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86388054	86388054	8:g.86388054A>G	-
NM_000067.3(CA2):c.508-7G>A	760	CA2	Uncertain significance	886063149	RCV000277175;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389342	86389342	NC_000008.10:g.86389342G>A	ClinGen:CA10625861	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.508-1G>C	760	CA2	Pathogenic	1444065478	RCV000000965;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389348	86389348	86389348	OMIM:611492.0005	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.534C>T (p.Phe178=)	760	CA2	Likely benign	17850824	RCV002161477\|RCV002486978;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389375	86389375	86389375	-
NM_000067.3(CA2):c.539C>T (p.Pro180Leu)	760	CA2	Uncertain significance	886063150	RCV000330141;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389380	86389380	NC_000008.10:g.86389380C>T	ClinGen:CA10631593	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.541C>T (p.Arg181Cys)	760	CA2	Uncertain significance	377003627	RCV001896573\|RCV002482730;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389382	86389382	86389382	-
NM_000067.3(CA2):c.549C>G (p.Leu183=)	760	CA2	Likely benign	151021025	RCV000903768\|RCV002487971;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389390	86389390	8:g.86389390C>G	-
NM_000067.3(CA2):c.562T>C (p.Leu188=)	760	CA2	Benign	703	RCV000242714\|RCV000386953\|RCV001522469;	N	MedGen:CN169374\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86389403	86389403	8:g.86389403T>C	ClinGen:CA4796576	CN169374 not specified;
NM_000067.3(CA2):c.575C>T (p.Thr192Ile)	760	CA2	Uncertain significance	369229469	RCV000723179\|RCV002485843;	N	MedGen:CN517202\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389416	86389416	NC_000008.10:g.86389416C>T	-
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)	760	CA2	Likely pathogenic	1203921376	RCV000991390\|RCV002274114;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738	8	86389420	86389420	8:g.86389420C>G	-
NM_000067.3(CA2):c.607C>A (p.Leu203Met)	760	CA2	Likely benign	548376992	RCV002193953\|RCV002505862;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389448	86389448	86389448	-
NM_000067.3(CA2):c.618G>A (p.Val206=)	760	CA2	Benign/Likely benign	369700367	RCV000889200\|RCV002487949;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389459	86389459	8:g.86389459G>A	-
NM_000067.3(CA2):c.621del (p.Trp208fs)	760	CA2	Pathogenic	-1	RCV000000968;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389461	86389461	86389460	OMIM:611492.0008
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)	760	CA2	Pathogenic/Likely pathogenic	-1	RCV002508596\|RCV003147774;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389471	86389482	NC_000008.10:g.86389471_86389482delinsCACA	-
NM_000067.3(CA2):c.648C>T (p.Ser216=)	760	CA2	Benign/Likely benign	376387073	RCV000290204\|RCV000910104;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86389489	86389489	NC_000008.10:g.86389489C>T	ClinGen:CA4796589	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.649G>A (p.Val217Ile)	760	CA2	Uncertain significance	539558180	RCV001054735\|RCV002489638;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86389490	86389490	8:g.86389490G>A	-
NM_000067.3(CA2):c.663+82A>C	760	CA2	Benign	6605618	RCV001554637\|RCV001619983;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86389586	86389586	86389586	-
NM_000067.3(CA2):c.677G>A (p.Arg226His)	760	CA2	Uncertain significance	201928238	RCV000179708\|RCV001159040\|RCV002517756;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MeSH:D030342,MedGen:C0950123	8	86392912	86392912	NC_000008.10:g.86392912G>A	ClinGen:CA247017	CN169374 not specified;
NM_000067.3(CA2):c.681del (p.Lys227fs)	760	CA2	Pathogenic/Likely pathogenic	779869368	RCV000779564\|RCV001873184;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:CN517202	8	86392914	86392914	NC_000008.10:g.86392916del	-
NM_000067.3(CA2):c.709G>A (p.Glu237Lys)	760	CA2	Uncertain significance	143666045	RCV002027079\|RCV002498063;	N	MedGen:C3661900\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86392944	86392944	86392944	-
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)	760	CA2	Benign/Likely benign	2228063	RCV000000961\|RCV000328868\|RCV000961873;	N	\|MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86392989	86392989	8:g.86392989A>G	ClinGen:CA114619,UniProtKB:P00918#VAR_001384,OMIM:611492.0001	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*17G>A	760	CA2	Uncertain significance	140653628	RCV000381335;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393035	86393035	NC_000008.10:g.86393035G>A	ClinGen:CA4796637	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*173T>C	760	CA2	Uncertain significance	1041356270	RCV001159041;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393191	86393191	8:g.86393191T>C	-
NM_000067.3(CA2):c.*212A>G	760	CA2	Benign	73263450	RCV000289207\|RCV001643100;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785\|MedGen:C3661900	8	86393230	86393230	NC_000008.10:g.86393230A>G	ClinGen:CA10631658	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*303C>T	760	CA2	Benign	150089617	RCV000341972;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393321	86393321	NC_000008.10:g.86393321C>T	ClinGen:CA10631660	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*374A>G	760	CA2	Uncertain significance	886063151	RCV000396538;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393392	86393392	NC_000008.10:g.86393392A>G	ClinGen:CA10625862	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*465A>C	760	CA2	Uncertain significance	886063152	RCV000283473;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393483	86393483	NC_000008.10:g.86393483A>C	ClinGen:CA10625863	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*535T>C	760	CA2	Uncertain significance	1811887892	RCV001160378;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393553	86393553	8:g.86393553T>C	-
NM_000067.3(CA2):c.*562T>C	760	CA2	Uncertain significance	886063153	RCV000340863;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393580	86393580	NC_000008.10:g.86393580T>C	ClinGen:CA10631662	C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*624T>C	760	CA2	Uncertain significance	533282871	RCV001160379;	N	MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730, Orphanet:2785	8	86393642	86393642	8:g.86393642T>C	-

MSeqDR Portal

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