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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 and Homocystinuria, CblD Type (C564743)
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:

7150

Name:

Methylmalonic Aciduria and Homocystinuria, CblD Type

Definition:

Alternative IDs:

OMIM:277410

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C564743 |C18.452.648.100/C564743

Synonyms:

Homocystinuria, CblD Type, Variant 1 |Methylmalonic Acidemia and Homocystinuria, CblD Type |METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED |METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY |Methylmalonic Acidur

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C564743
MeSH: C564743
OMIM: 277410;

Genes: MMADHC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002120	Cerebral cortical atrophy
4	HP:0003145	Decreased adenosylcobalamin
5	HP:0003524	Decreased methionine synthase activity
6	HP:0003223	Decreased methylcobalamin
7	HP:0003210	Decreased methylmalonyl-CoA mutase activity
8	HP:0001332	Dystonia
9	HP:0001290	Generalized hypotonia
10	HP:0001263	Global developmental delay
11	HP:0002156	Homocystinuria
12	HP:0002160	Hyperhomocystinemia
13	HP:0003658	Hypomethioninemia
14	HP:0001252	Hypotonia
15	HP:0005518	Increased mean corpuscular volume
16	HP:0001249	Intellectual disability
17	HP:0001254	Lethargy
18	HP:0001889	Megaloblastic anemia
19	HP:0002912	Methylmalonic acidemia
20	HP:0012120	Methylmalonic aciduria
21	HP:0000639	Nystagmus
22	HP:0001250	Seizure
23	HP:0002497	Spastic ataxia

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_015702.2(MMADHC):c.748C>T (p.Arg250Ter)	27249	MMADHC	Pathogenic	118204048	RCV000000803;	N	MedGen:C1848552,OMIM:277410	2	150426631	150426631	NM_015702.2:c.748C>T	NP_056517.1:p.Arg250Ter	NC_000002.11:g.150426631G>A	OMIM Allelic Variant:611935.0007	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.696+3_696+6del	27249	MMADHC	Pathogenic	397509364	RCV000000805;	N	MedGen:C1848552,OMIM:277410	2	150427593	150427596	NM_015702.2:c.696+3_696+6del		NC_000002.11:g.150427593_150427596delACTC	OMIM Allelic Variant:611935.0009	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.455dupC (p.Cys153Metfs)	27249	MMADHC	Pathogenic	864309743	RCV000203351;	N	MedGen:C1848552,OMIM:277410	2	150432974	150432974	NM_015702.2:c.455dupC	NP_056517.1:p.Cys153Metfs	NC_000002.11:g.150432974dupG	-	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.419dupA (p.Tyr140Terfs)	27249	MMADHC	Pathogenic	397509363	RCV000000804;	N	MedGen:C1848552,OMIM:277410	2	150433010	150433010	NM_015702.2:c.419dupA	NP_056517.1:p.Tyr140Terfs	NC_000002.11:g.150433010dupT	OMIM Allelic Variant:611935.0008	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.307_324dup18 (p.Ser108_Ser109insLeuAlaGluProLeuSer)	27249	MMADHC	Pathogenic	397509362	RCV000000802; RCV000203341;	N	MedGen:C1848552,OMIM:277410; MedGen:C1848554	2	150435993	150436010	NM_015702.2:c.307_324dup18	NP_056517.1:p.Ser108_Ser109insLeuAlaGluProLeuSer	NC_000002.11:g.150435993_150436010dup18	OMIM Allelic Variant:611935.0006	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD; C1848554 Methylmalonic aciduria, cblD type, variant 2
NM_015702.2(MMADHC):c.228dupG (p.Asn77Glufs)	27249	MMADHC	Pathogenic	864309741	RCV000203370;	N	MedGen:C1848552,OMIM:277410	2	150436089	150436089	NM_015702.2:c.228dupG	NP_056517.1:p.Asn77Glufs	NC_000002.11:g.150436089dupC	-	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.160C>T (p.Arg54Ter)	27249	MMADHC	Pathogenic	118204047	RCV000000801; RCV000203332;	N	MedGen:C1848552,OMIM:277410; MedGen:C1848554	2	150436157	150436157	NM_015702.2:c.160C>T	NP_056517.1:p.Arg54Ter	NC_000002.11:g.150436157G>A	OMIM Allelic Variant:611935.0005	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD; C1848554 Methylmalonic aciduria, cblD type, variant 2
NM_015702.2(MMADHC):c.133dupG (p.Ala45Glyfs)	27249	MMADHC	Pathogenic	864309740	RCV000203409;	N	MedGen:C1848552,OMIM:277410	2	150438662	150438662	NM_015702.2:c.133dupG	NP_056517.1:p.Ala45Glyfs	NC_000002.11:g.150438662dupC	-	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD
NM_015702.2(MMADHC):c.57_64delCTCTTTAG (p.Ser20Terfs)	27249	MMADHC	Pathogenic	397509361	RCV000000800; RCV000203371;	N	MedGen:C1848552,OMIM:277410; MedGen:C1848554	2	150438731	150438738	NM_015702.2:c.57_64delCTCTTTAG	NP_056517.1:p.Ser20Terfs	NC_000002.11:g.150438731_150438738delCTAAAGAG	OMIM Allelic Variant:611935.0004	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD; C1848554 Methylmalonic aciduria, cblD type, variant 2
NM_015702.2(MMADHC):c.60_61insAT (p.Leu21Ilefs)	27249	MMADHC	Pathogenic	864309742	RCV000203311;	N	MedGen:C1848552,OMIM:277410	2	150438734	150438735	NM_015702.2:c.60_61insAT	NP_056517.1:p.Leu21Ilefs	NC_000002.11:g.150438734_150438735insAT	-	C1848552 277410 Methylmalonic acidemia with homocystinuria cblD