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	acidemia, methylmalonic

Disease ID	1782
Disease	acidemia, methylmalonic
Definition	autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase.
Synonym	acidemias methylmalonic isolated methylmalonic acidemia methylmalonic acidaemia methylmalonic acidemia methylmalonic acidemia (disorder) methylmalonic acidemia, nos methylmalonic acidemias methylmalonic aciduria mma - methylmalonic aciduria
DOID	DOID:14749
ICD10	ICD10CM:E71.120
UMLS	C0268583
SNOMED-CT	SNOMEDCT_US_2016_09_01:42393006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0019880 \| homocystinuria \| 8 C0042847 \| cobalamin deficiency \| 2 C0029132 \| optic neuropathy \| 2 C0014544 \| epilepsy \| 2 C0011880 \| diabetic ketoacidosis \| 2 C0442874 \| neuropathy \| 2 C0002871 \| anemia \| 1 C0001125 \| lactic acidosis \| 1 C0026393 \| molluscum contagiosum \| 1 C0598608 \| hyperhomocysteinemia \| 1 C0030312 \| pancytopenia \| 1 C0014547 \| focal epilepsy \| 1 C0019061 \| hemolytic uremic syndrome \| 1 C0002886 \| macrocytic anemia \| 1 C0020255 \| hydrocephalus \| 1 C0268579 \| propionic acidemia \| 1 C0018799 \| cardiac disease \| 1 C0206624 \| hepatoblastoma \| 1 C0037769 \| west syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 197322 \| ACSF3 \| CTD_human 166785 \| MMAA \| GHR 27249 \| MMADHC \| GHR 6648 \| SOD2 \| CTD_human 326625 \| MMAB \| GHR 284119 \| PTRF \| CTD_human 2820 \| GPD2 \| CTD_human 4594 \| MUT \| CTD_human;GHR 54205 \| CYCS \| CTD_human 84693 \| MCEE \| GHR 1382 \| CRABP2 \| CTD_human 8801 \| SUCLG2 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 5826 \| ABCD4 \| 3.883 \| DISEASES 32 \| ACACB \| 1.41 \| DISEASES 36 \| ACADSB \| 2.47 \| DISEASES 37 \| ACADVL \| 1.127 \| DISEASES 197322 \| ACSF3 \| 4.705 \| DISEASES 55811 \| ADCY10 \| 1.447 \| DISEASES 11214 \| AKAP13 \| 1.269 \| DISEASES 5832 \| ALDH18A1 \| 2.085 \| DISEASES 224 \| ALDH3A2 \| 1.356 \| DISEASES 4329 \| ALDH6A1 \| 4.001 \| DISEASES 229 \| ALDOB \| 2.496 \| DISEASES 27350 \| APOBEC3C \| 2.349 \| DISEASES 353 \| APRT \| 1.258 \| DISEASES 54829 \| ASPN \| 1.156 \| DISEASES 53335 \| BCL11A \| 1.033 \| DISEASES 1108 \| CHD4 \| 1.74 \| DISEASES 10675 \| CSPG5 \| 1.649 \| DISEASES 1491 \| CTH \| 3.165 \| DISEASES 8029 \| CUBN \| 1.021 \| DISEASES 80067 \| DCAF17 \| 2.893 \| DISEASES 2242 \| FES \| 1.131 \| DISEASES 2643 \| GCH1 \| 1.618 \| DISEASES 2731 \| GLDC \| 1.63 \| DISEASES 3033 \| HADH \| 1.091 \| DISEASES 3030 \| HADHA \| 1.864 \| DISEASES 3109 \| HLA-DMB \| 1.173 \| DISEASES 3155 \| HMGCL \| 4.636 \| DISEASES 11275 \| KLHL2 \| 1.698 \| DISEASES 55788 \| LMBRD1 \| 5.391 \| DISEASES 326625 \| MMAB \| 6.378 \| DISEASES 25974 \| MMACHC \| 7.038 \| DISEASES 4522 \| MTHFD1 \| 3.522 \| DISEASES 4524 \| MTHFR \| 2.349 \| DISEASES 4536 \| MT-ND2 \| 1.102 \| DISEASES 4548 \| MTR \| 5.194 \| DISEASES 5091 \| PC \| 1.114 \| DISEASES 5095 \| PCCA \| 2.336 \| DISEASES 5096 \| PCCB \| 3.103 \| DISEASES 9376 \| SLC22A8 \| 1.274 \| DISEASES 10165 \| SLC25A13 \| 3.458 \| DISEASES 6569 \| SLC34A1 \| 1.681 \| DISEASES 55553 \| SOX6 \| 1.483 \| DISEASES 6430 \| SRSF5 \| 1.971 \| DISEASES 8803 \| SUCLA2 \| 5.247 \| DISEASES 8802 \| SUCLG1 \| 5.116 \| DISEASES 8801 \| SUCLG2 \| 2.119 \| DISEASES 1678 \| TIMM8A \| 1.349 \| DISEASES 89910 \| UBE3B \| 1.39 \| DISEASES 51733 \| UPB1 \| 2.391 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1782
Disease	acidemia, methylmalonic
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002156 \| High urine homocystine levels \| 9 HP:0001138 \| Damaged optic nerve \| 2 HP:0001953 \| Diabetic ketosis \| 2 HP:0001972 \| Macrocytic anemia \| 1 HP:0000512 \| ERG abnormal \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0000572 \| Visual loss \| 1 HP:0001941 \| acidemia \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0002884 \| Hepatoblastoma \| 1 HP:0001942 \| Metabolic acidosis \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0005575 \| Hemolytic-uremic syndrome \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0001903 \| Anemia \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1

Disease ID	1782
Disease	acidemia, methylmalonic
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0042847 \| cobalamin deficiency \| 2 C0037769 \| west syndrome \| 1 C1839611 \| n syndrome \| 1 C0030312 \| pancytopenia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918256	19588269	4594	MUT	umls:C0268583	BeFree	The detection of the novel c.481G>A (p.Gly161Arg) and the known c.655A>T (p.Asn219Tyr) MUT gene mutations identified the first patient as affected by methylmalonic acidaemia mut type.	0.132486326	2009	MUT	6	49457789	T	A
rs121918258	16451139	4594	MUT	umls:C0268583	BeFree	Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation.	0.132486326	2006	MUT	6	49457801	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1782
Disease	acidemia, methylmalonic
Case	(Waiting for update.)

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