eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	ornithinemia

Disease ID	1762
Disease	ornithinemia
Definition	excess of ornithine in the plasma, such as occurs in the genetic disorders gyrate atrophy of choroid and retina and hyperornithinemia-hyperamonemia-homocitrullinuria syndrome.
Synonym	deficiency of ornithine-oxo-acid aminotransferase deficiency of ornithine-oxo-acid aminotransferase (disorder) deficiency, oat deficiency, okt deficiency, ornithine aminotransferase deficiency, ornithine-delta-aminotransferase high blood ornithine levels hyperornithinaemia hyperornithinaemia, nos hyperornithinemia hyperornithinemia (disorder) hyperornithinemia, nos oat - ornithine oxo-acid aminotransferase deficiency oat deficiency okt deficiency ornithine aminotransferase deficiency ornithine delta aminotransferase deficiency ornithine keto acid aminotransferase deficiency ornithine ketoacid aminotransferase deficiency ornithine ketoacid transaminase deficiency ornithine oxo-acid aminotransferase deficiency ornithine oxo-acid aminotransferase deficiency (disorder) ornithine oxo-acid aminotransferase deficiency [ambiguous] ornithine-delta-aminotransferase deficiency ornithine-oxo-acid amino acid transferase deficiency
Orphanet	ORPHANET:414
OMIM	OMIM:258870
UMLS	C0599035
SNOMED-CT	SNOMEDCT_US_2016_09_01:276426004;SNOMEDCT_US_2016_09_01:33985005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4942 \| OAT \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1762
Disease	ornithinemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0003701 \| Proximal limb muscle weakness HP:0000618 \| Blindness HP:0003457 \| Abnormal EMG HP:0001939 \| Laboratory abnormality HP:0000533 \| Chorioretinal atrophy HP:0000545 \| Near sightedness HP:0000662 \| Poor night vision HP:0007787 \| Posterior subcapsular cataract
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001105 \| Retinal atrophy \| 1 HP:0000533 \| Chorioretinal atrophy \| 1

Disease ID	1762
Disease	ornithinemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:61)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894429	10805333	10166	SLC25A15	umls:C0599035	BeFree	Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.	0.001085767	2000	SLC25A15;TPTE2P5	13	40807376	C	T
rs121965034	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124412169	C	T
rs121965035	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405532	AGC	-
rs121965036	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398076	G	C,A
rs121965037	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124412009	A	G
rs121965038	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408887	C	A
rs121965039	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408601	C	T,A
rs121965040	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405545	C	G
rs121965041	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403019	C	G
rs121965042	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403015	C	T
rs121965043	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398057	A	G
rs121965044	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398012	G	A
rs121965045	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124400875	C	G
rs121965046	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403835	T	C
rs121965047	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401746	C	T
rs121965048	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124412010	G	T
rs121965049	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401785	G	A
rs121965050	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405534	C	T
rs121965051	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403847	G	A
rs121965052	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403820	C	T,G
rs121965053	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124400941	C	T
rs121965054	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398082	A	G
rs121965055	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398061	C	A
rs121965056	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405457	A	T
rs121965057	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124402930	G	C
rs121965058	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124397986	G	A
rs121965060	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408897	G	C
rs1800456	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124397951	C	T,G,A
rs267606923	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405551	C	T
rs267606924	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403003	C	T
rs267606925	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405488	G	T
rs386833594	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124400968	T	-
rs386833595	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124400881	C	T
rs386833596	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398090	C	T
rs386833597	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124398081	C	T
rs386833598	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124397955	A	T
rs386833599	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124412013	G	-
rs386833600	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124411979	CT	-
rs386833601	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124411670	G	C
rs386833602	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408898	G	T
rs386833603	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408893	C	T
rs386833604	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408854	T	C
rs386833605	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408803	C	T
rs386833606	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408790	CTC	-
rs386833607	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408783	-	A
rs386833608	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408639	T	C
rs386833609	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408634	ACTCCTATC	-
rs386833610	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408637	C	T
rs386833611	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124408576	GCCCTTCACGGTATA	-
rs386833612	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405548	CCCCA	-
rs386833613	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405542	G	A
rs386833614	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124405501	C	A
rs386833615	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403871	T	C
rs386833616	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403859	C	T
rs386833617	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403821	G	T,A
rs386833618	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124403027	G	A
rs386833619	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401841	T	C
rs386833620	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401788	C	-
rs386833621	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401788	C	T
rs386833622	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401762	A	T
rs386833623	NA	4942	OAT	umls:C0599035	CLINVAR	NA	0.242442977	NA	OAT	10	124401749	G	A

GWASdb Annotation(Total Genotypes:1)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
10	126093991	rs9422807	NM_001171814,OAT	NM_000274,OAT	ENST00000368845,ENSG00000065154	ENST00000467675,ENSG00000065154	ENST00000483711,ENSG00000065154	NA	NA	chr10,126090001,126100000,chr5,680001,690000,124,Hi-C	chr10,126090001,126100000,chr14,27520001,27530000,7,Hi-C	NA	Fhl1-DBD-primary,1.451	Hlx1_2350,2.376	Hmbox1_2674,1.4221	Hoxa13_3126,1.2641	Met32-primary,2.0391	NA	NA	NA	NA	NA	NA	0.000	-0.726	-3.18	GE1	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript

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

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000533	Chorioretinal atrophy	MP:0005548	retinal pigment epithelium atrophy	acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, i
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0003701	Proximal muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time
HP:0007787	Posterior subcapsular cataract	MP:0001304	cataract	complete or partial opacity of the lens

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003457	EMG abnormality	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000618	Blindness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000545	Myopia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000533	Chorioretinal atrophy	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0000662	Nyctalopia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0007787	Posterior subcapsular cataract	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0003701	Proximal muscle weakness	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue

Disease ID	1762
Disease	ornithinemia
Case	(Waiting for update.)