PedAM

Pediatric Disease Annotations & Medicines


	l-2-hydroxyglutaric aciduria

Disease ID	336
Disease	l-2-hydroxyglutaric aciduria
Definition	A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present.
Synonym	l-2(oh) glutaric aciduria l-2(oh) glutaric aciduria (disorder) l-2-hga l-2-hydroxy-glutaric aciduria l-2-hydroxy-glutaric aciduria (disorder) l-2-hydroxyglutaric aciduria (disorder) l2hga
Orphanet	ORPHANET:79314
OMIM	OMIM:236792
DOID	DOID:0050574
UMLS	C1855995
SNOMED-CT	SNOMEDCT_US_2016_09_01:237961001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0019562 \| lindau disease \| 1 C0019562 \| hippel-lindau disease \| 1 C0019562 \| von hippel-lindau disease \| 1 C0334576 \| gliomatosis cerebri \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) L2HGDH \| 79944 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:26) 6576 \| SLC25A1 \| DISEASES 2937 \| GSS \| DISEASES 79152 \| FA2H \| DISEASES 2639 \| GCDH \| DISEASES 3417 \| IDH1 \| DISEASES 3004 \| GZMM \| DISEASES 79944 \| L2HGDH \| DISEASES 3948 \| LDHC \| DISEASES 23209 \| MLC1 \| DISEASES 27165 \| GLS2 \| DISEASES 51268 \| PIPOX \| DISEASES 4191 \| MDH2 \| DISEASES 3418 \| IDH2 \| DISEASES 875 \| CBS \| DISEASES 7080 \| NKX2-1 \| DISEASES 51097 \| SCCPDH \| DISEASES 1025 \| CDK9 \| DISEASES 3155 \| HMGCL \| DISEASES 833 \| CARS \| DISEASES 5091 \| PC \| DISEASES 146713 \| RBFOX3 \| DISEASES 3908 \| LAMA2 \| DISEASES 23218 \| NBEAL2 \| DISEASES 55862 \| ECHDC1 \| DISEASES 5053 \| PAH \| DISEASES 820 \| CAMP \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) L2HGDH \| 14q21.3

Disease ID	336
Disease	l-2-hydroxyglutaric aciduria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:12) HP:0006887 \| Intellectual disability, progressive HP:0004375 \| Neoplasm of the nervous system HP:0002357 \| Dysphasia HP:0001285 \| Spastic tetraparesis HP:0000256 \| Macrocephaly HP:0000708 \| Behavioral abnormality HP:0001250 \| Seizures HP:0002071 \| Abnormality of extrapyramidal motor function HP:0010864 \| Intellectual disability, severe HP:0002383 \| Encephalitis HP:0001252 \| Muscular hypotonia HP:0007360 \| Aplasia/Hypoplasia of the cerebellum
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002664 \| Neoplasia \| 1

Disease ID	336
Disease	l-2-hydroxyglutaric aciduria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2697367 \| medulloblastoma C2632116 \| stenosis C1336733 \| thalamic tumor C0027765 \| neurological disorder
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204020	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50269164	G	A
rs118204021	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50302994	C	T
rs267607206	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50302132	T	C
rs387907013	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50267814	G	A
rs786200869	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50265439	A	-
rs786200870	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50269162	C	A
rs797045678	NA	79944	L2HGDH	umls:C1855995	CLINVAR	NA	0.362171535	NA	L2HGDH	14	50294190	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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