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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)
Parent Node: Homocystinuria (D006712)
..Starting node ..Methylmalonic acidemia with homocystinuria (C537359)
Child Nodes:
Sister Nodes:
..Homocystinuria, Pyridoxine-Responsive (C565513)
..Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type (C565510)
..Methylenetetrahydrofolate reductase deficiency (C537357)
..Methylmalonic acidemia with homocystinuria (C537359)
..Mthfr Deficiency, Thermolabile Type (C565512)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7149

Name:

Methylmalonic acidemia with homocystinuria

Definition:

Alternative IDs:

OMIM:277400

ParentIDs:

MESH:D000592|MESH:D006712

TreeNumbers:

C10.228.140.163.100.365/C537359 |C16.320.565.100.480.500/C537359 |C16.320.565.100/C537359 |C16.320.565.189.365/C537359 |C17.300.428/C537359 |C18.452.132.100.365/C537359 |C18.452.648.100.480.500/C537359 |C18.452.648.100/C537359 |C18.452.648.189.365/C537359

Synonyms:

Cobalamin-C methylmalonic acidemia and homocystinuria |Methylmalonic acidemia and homocystinemia |Methylmalonic acidemia and homocystinuria cblC type |Methylmalonic Acidemia and Homocystinuria, CblC Type |Methylmalonic Aciduria and Homocystinuria, CblC Type |

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C537359
MeSH: C537359
OMIM: 277400;

Genes: MMACHC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset	HP:0040282
3	HP:0002071	Abnormality of extrapyramidal motor function
4	HP:0002120	Cerebral cortical atrophy
5	HP:0001289	Confusion
6	HP:0003286	Cystathioninemia
7	HP:0003153	Cystathioninuria
8	HP:0003145	Decreased adenosylcobalamin
9	HP:0003524	Decreased methionine synthase activity
10	HP:0003223	Decreased methylcobalamin
11	HP:0003210	Decreased methylmalonyl-CoA mutase activity
12	HP:0000726	Dementia
13	HP:0001508	Failure to thrive
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay
17	HP:0000790	Hematuria
18	HP:0005575	Hemolytic-uremic syndrome
19	HP:0000348	High forehead
20	HP:0002156	Homocystinuria
21	HP:0000238	Hydrocephalus
22	HP:0002160	Hyperhomocystinemia
23	HP:0003658	Hypomethioninemia
24	HP:0001252	Hypotonia
25	HP:0001249	Intellectual disability
26	HP:0001254	Lethargy
27	HP:0000276	Long face
28	HP:0000369	Low-set ears
29	HP:0000400	Macrotia
30	HP:0001889	Megaloblastic anemia
31	HP:0001942	Metabolic acidosis
32	HP:0002912	Methylmalonic acidemia
33	HP:0012120	Methylmalonic aciduria
34	HP:0000252	Microcephaly
35	HP:0000112	Nephropathy
36	HP:0001875	Neutropenia
37	HP:0000639	Nystagmus
38	HP:0000580	Pigmentary retinopathy
39	HP:0000093	Proteinuria
40	HP:0007663	Reduced visual acuity
41	HP:0000083	Renal insufficiency
42	HP:0001250	Seizure
43	HP:0000319	Smooth philtrum
44	HP:0001873	Thrombocytopenia
45	HP:0001907	Thromboembolism
46	HP:0001337	Tremor
47	HP:0000505	Visual impairment

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_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)	25974	MMACHC	Likely pathogenic;Pathogenic	398124292	RCV000001486; RCV000081737; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45973217	45973217	NM_015506.2:c.271dupA	NP_056321.2:p.Arg91Lysfs	NC_000001.10:g.45973217dupA	HGMD:CI055013,OMIM Allelic Variant:609831.0001	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)	25974	MMACHC	Likely pathogenic;Pathogenic	398124292	RCV000001486; RCV000081737; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45973217	45973217	NM_015506.2:c.271dupA	NP_056321.2:p.Arg91Lysfs	NC_000001.10:g.45973217dupA	HGMD:CI055013,OMIM Allelic Variant:609831.0001	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.276G>T (p.Glu92Asp)	25974	MMACHC	Pathogenic	556977618	RCV000148298;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45973222	45973222	NM_015506.2:c.276G>T	NP_056321.2:p.Glu92Asp	NC_000001.10:g.45973222G>A,NC_000001.10:g.45973222G>T	OMIM Allelic Variant:609831.0008	C1848561 277400 Methylmalonic acidemia with homocystinuria
NM_015506.2(MMACHC):c.276G>A (p.Glu92=)	25974	MMACHC	Pathogenic	556977618	RCV000148299;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45973222	45973222	NM_015506.2:c.276G>A	NP_056321.2:p.Glu92=	NC_000001.10:g.45973222G>A,NC_000001.10:g.45973222G>T	OMIM Allelic Variant:609831.0009	C1848561 277400 Methylmalonic acidemia with homocystinuria
NM_015506.2(MMACHC):c.331C>T (p.Arg111Ter)	25974	MMACHC	Pathogenic	121918242	RCV000001489; RCV000186026;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN221809	1	45973938	45973938	NM_015506.2:c.331C>T	NP_056321.2:p.Arg111Ter	NC_000001.10:g.45973938C>T	OMIM Allelic Variant:609831.0004	C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.347T>C (p.Leu116Pro)	25974	MMACHC	Pathogenic	121918240	RCV000001487;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45973954	45973954	NM_015506.2:c.347T>C	NP_056321.2:p.Leu116Pro	NC_000001.10:g.45973954T>C	OMIM Allelic Variant:609831.0002	C1848561 277400 Methylmalonic acidemia with homocystinuria
NM_015506.2(MMACHC):c.394C>T (p.Arg132Ter)	25974	MMACHC	Pathogenic	121918241	RCV000001488; RCV000153508;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN221809	1	45974001	45974001	NM_015506.2:c.394C>T	NP_056321.2:p.Arg132Ter	NC_000001.10:g.45974001C>T	HGMD:CM060051,OMIM Allelic Variant:609831.0003	C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.420G>A (p.Trp140Ter)	25974	MMACHC	Pathogenic	796051996	RCV000190393; RCV000186027;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN221809	1	45974027	45974027	NM_015506.2:c.420G>A	NP_056321.2:p.Trp140Ter	NC_000001.10:g.45974027G>A	-	C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.464G>A (p.Gly155Glu)	25974	MMACHC	Pathogenic	606231425	RCV000148300;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45974502	45974502	NM_015506.2:c.464G>A	NP_056321.2:p.Gly155Glu	NC_000001.10:g.45974502G>A	OMIM Allelic Variant:609831.0010	C1848561 277400 Methylmalonic acidemia with homocystinuria
NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln)	25974	MMACHC	Likely pathogenic;Pathogenic	121918243	RCV000001490; RCV000081740; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45974520	45974520	NM_015506.2:c.482G>A	NP_056321.2:p.Arg161Gln	NC_000001.10:g.45974520G>A	HGMD:CM060063,OMIM Allelic Variant:609831.0005	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln)	25974	MMACHC	Likely pathogenic;Pathogenic	121918243	RCV000001490; RCV000081740; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45974520	45974520	NM_015506.2:c.482G>A	NP_056321.2:p.Arg161Gln	NC_000001.10:g.45974520G>A	HGMD:CM060063,OMIM Allelic Variant:609831.0005	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.609G>A (p.Trp203Ter)	25974	MMACHC	Pathogenic	587776889	RCV000023785;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45974647	45974647	NM_015506.2:c.609G>A	NP_056321.2:p.Trp203Ter	NC_000001.10:g.45974647G>A	OMIM Allelic Variant:609831.0006	C1848561 277400 Methylmalonic acidemia with homocystinuria
NM_015506.2(MMACHC):c.766_771delGCCCCC (p.Ala256_Pro257del)	25974	MMACHC	not provided	796064513	RCV000190394;	N	MedGen:C1848561,OMIM:277400,ORPHA:26	1	45974804	45974809	NM_015506.2:c.766_771delGCCCCC	NP_056321.2:p.Ala256_Pro257del	NC_000001.10:g.45974804_45974809delGCCCCC	-	C1848561 277400 Methylmalonic acidemia with homocystinuria