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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

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Methylmalonic aciduria cblB type (C537361)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7153

Name:

Methylmalonic aciduria cblB type

Definition:

Alternative IDs:

OMIM:251110

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C537361 |C18.452.648.100/C537361

Synonyms:

Methylmalonic acidemia cblB type |Methylmalonic Acidemia, cblB Type |Methylmalonic Aciduria, cblB Type |METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537361
MeSH: C537361
OMIM: 251110;

Genes: MMAB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0001903	Anemia
4	HP:0001259	Coma
5	HP:0003145	Decreased adenosylcobalamin
6	HP:0003210	Decreased methylmalonyl-CoA mutase activity
7	HP:0001944	Dehydration
8	HP:0001508	Failure to thrive
9	HP:0008872	Feeding difficulties in infancy
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0002240	Hepatomegaly
13	HP:0001987	Hyperammonemia
14	HP:0002154	Hyperglycinemia
15	HP:0001252	Hypotonia
16	HP:0002919	Ketonuria
17	HP:0001946	Ketosis
18	HP:0001254	Lethargy
19	HP:0001942	Metabolic acidosis
20	HP:0002912	Methylmalonic acidemia
21	HP:0012120	Methylmalonic aciduria
22	HP:0001875	Neutropenia
23	HP:0001876	Pancytopenia
24	HP:0002098	Respiratory distress
25	HP:0001873	Thrombocytopenia
26	HP:0002013	Vomiting

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_052845.3(MMAB):c.56_57delGCinsAA (p.Arg19Gln)	-1	-	Pathogenic	36013132	RCV000203382;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110011229	110011230	NM_052845.3:c.56_57delGCinsAA	NP_443077.1:p.Arg19Gln	NC_000012.11:g.110011229_110011230delGCinsTT	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.37_54del18 (p.Gly13_Leu18del)	-1	-	not provided	770077320	RCV000190395;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110011232	110011249	NM_052845.3:c.37_54del18	NP_443077.1:p.Gly13_Leu18del	NC_000012.11:g.110011232_110011249del18	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.2T>C (p.Met1Thr)	-1	-	Pathogenic	869320655	RCV000210846;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110011284	110011284	NM_052845.3:c.2T>C	NP_443077.1:p.Met1Thr	NC_000012.11:g.110011284A>G	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_172250.2(MMAA):c.370C>T (p.Gln124Ter)	166785	MMAA	not provided	796064514	RCV000190396;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	4	146560661	146560661	NM_172250.2:c.370C>T	NP_758454.1:p.Gln124Ter	NC_000004.11:g.146560661C>T	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.716T>A (p.Met239Lys)	326625	MMAB	Benign;Pathogenic	9593	RCV000203401; RCV000082328;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311; MedGen:CN169374	12	109994870	109994870	NM_052845.3:c.716T>A	NP_443077.1:p.Met239Lys	NC_000012.11:g.109994870A>T	-	C1855102 251110 Methylmalonic aciduria cblB type; CN169374 not specified
NM_052845.3(MMAB):c.700C>T (p.Gln234Ter)	326625	MMAB	Pathogenic	369296618	RCV000190603; RCV000186019;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311; MedGen:CN221809	12	109994886	109994886	NM_052845.3:c.700C>T	NP_443077.1:p.Gln234Ter	NC_000012.11:g.109994886G>A	-	C1855102 251110 Methylmalonic aciduria cblB type; CN221809 not provided
NM_052845.3(MMAB):c.656A>G (p.Tyr219Cys)	326625	MMAB	Pathogenic	765547005	RCV000203386;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109994930	109994930	NM_052845.3:c.656A>G	NP_443077.1:p.Tyr219Cys	NC_000012.11:g.109994930T>C	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.520_584del65	326625	MMAB	Pathogenic	756195708	RCV000202574;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998845	109998845	NM_052845.3:c.520_584del65		NC_000012.11:g.109998845C>T	OMIM Allelic Variant:607568.0005	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.570_572dupCCG (p.Arg191_Ala192insArg)	326625	MMAB	Pathogenic	864309512	RCV000202602;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998857	109998859	NM_052845.3:c.570_572dupCCG	NP_443077.1:p.Arg191_Ala192insArg	NC_000012.11:g.109998857_109998859dupCGG	OMIM Allelic Variant:607568.0010	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.572G>A (p.Arg191Gln)	326625	MMAB	Pathogenic	746219370	RCV000203356;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998857	109998857	NM_052845.3:c.572G>A	NP_443077.1:p.Arg191Gln	NC_000012.11:g.109998857C>T	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.571C>T (p.Arg191Trp)	326625	MMAB	Pathogenic	376128990	RCV000202597;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998858	109998858	NM_052845.3:c.571C>T	NP_443077.1:p.Arg191Trp	NC_000012.11:g.109998858G>A	OMIM Allelic Variant:607568.0006	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.569G>A (p.Arg190His)	326625	MMAB	Pathogenic	756414548	RCV000203392; RCV000186018;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311; MedGen:CN221809	12	109998860	109998860	NM_052845.3:c.569G>A	NP_443077.1:p.Arg190His	NC_000012.11:g.109998860C>T	-	C1855102 251110 Methylmalonic aciduria cblB type; CN221809 not provided
NM_052845.3(MMAB):c.568C>T (p.Arg190Cys)	326625	MMAB	Pathogenic	398124434	RCV000203347; RCV000082327;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311; MedGen:CN221809	12	109998861	109998861	NM_052845.3:c.568C>T	NP_443077.1:p.Arg190Cys	NC_000012.11:g.109998861G>A	HGMD:CM061117	C1855102 251110 Methylmalonic aciduria cblB type; CN221809 not provided
NM_052845.3(MMAB):c.563T>G (p.Val188Gly)	326625	MMAB	Pathogenic	869320654	RCV000210838;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998866	109998866	NM_052845.3:c.563T>G	NP_443077.1:p.Val188Gly	NC_000012.11:g.109998866A>C	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.556C>T (p.Arg186Trp)	326625	MMAB	Pathogenic	28941784	RCV000003241; RCV000186017;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311; MedGen:CN221809	12	109998873	109998873	NM_052845.3:c.556C>T	NP_443077.1:p.Arg186Trp	NC_000012.11:g.109998873G>A	OMIM Allelic Variant:607568.0001	C1855102 251110 Methylmalonic aciduria cblB type; CN221809 not provided
NM_052845.3(MMAB):c.548A>T (p.His183Leu)	326625	MMAB	Pathogenic	752866643	RCV000202581;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109998881	109998881	NM_052845.3:c.548A>T	NP_443077.1:p.His183Leu	NC_000012.11:g.109998881T>A	OMIM Allelic Variant:607568.0009	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.403G>A (p.Ala135Thr)	326625	MMAB	Pathogenic	35648932	RCV000203394;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109999603	109999603	NM_052845.3:c.403G>A	NP_443077.1:p.Ala135Thr	NC_000012.11:g.109999603C>T	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.349_354delATCCAG	326625	MMAB	Pathogenic	864309510	RCV000202577;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	109999658	109999658	NM_052845.3:c.349_354delATCCAG		NC_000012.11:g.109999658C>G	OMIM Allelic Variant:607568.0007	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.291-1G>A	326625	MMAB	Pathogenic	199971687	RCV000203348;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110002982	110002982	NM_052845.3:c.291-1G>A		NC_000012.11:g.110002982C>T	-	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.197_290del94	326625	MMAB	Pathogenic	864309511	RCV000202589;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110006575	110006575	NM_052845.3:c.197_290del94		NC_000012.11:g.110006575C>T	OMIM Allelic Variant:607568.0008	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.287T>C (p.Ile96Thr)	326625	MMAB	Pathogenic	864309509	RCV000202588;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110006578	110006578	NM_052845.3:c.287T>C	NP_443077.1:p.Ile96Thr	NC_000012.11:g.110006578A>G	OMIM Allelic Variant:607568.0004	C1855102 251110 Methylmalonic aciduria cblB type
NM_052845.3(MMAB):c.197-1G>T	326625	MMAB	Pathogenic	763935916	RCV000203326;	N	MedGen:C1855102,OMIM:251110,ORPHA:79311	12	110006669	110006669	NM_052845.3:c.197-1G>T		NC_000012.11:g.110006669C>A	-	C1855102 251110 Methylmalonic aciduria cblB type