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encyclopedia of Rare Disease Annotation for Precision Medicine

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	histidinemia

Disease ID	208
Disease	histidinemia
Definition	autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
Synonym	deficiency in histidase deficiency of histidase deficiency of histidinase deficiency of histidine a-deaminase deficiency of histidine ammonia-lyase deficiency of histidine ammonia-lyase (disorder) hal deficiency high blood histidine level his deficiency histidase deficiency histidinaemia histidine ammonia-lyase deficiency histidine ammonia-lyase deficiency (disorder) histidinemia (disorder) hyperhistidinemia
Orphanet	ORPHANET:2157
OMIM	OMIM:235800
DOID	DOID:0060168
ICD10	ICD10CM:E70.41
UMLS	C0220992
SNOMED-CT	SNOMEDCT_US_2016_09_01:124628005;SNOMEDCT_US_2016_09_01:410058007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0029456 \| osteoporosis \| 1 C0220992 \| histidinemia \| 1 C0007847 \| cervical cancer \| 1 C0302592 \| cervical ca \| 1 C0029442 \| osteomalacia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3034 \| HAL \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:8) 1491 \| CTH \| 3.004 \| DISEASES 1523 \| CUX1 \| 3.305 \| DISEASES 1555 \| CYP2B6 \| 2.251 \| DISEASES 221937 \| FOXK1 \| 3.459 \| DISEASES 2805 \| GOT1 \| 3.756 \| DISEASES 5498 \| PPOX \| 3.296 \| DISEASES 5265 \| SERPINA1 \| 1.329 \| DISEASES 348932 \| SLC6A18 \| 5.259 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) HAL \| 12q23.1

Disease ID	208
Disease	histidinemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0002167 \| Speech disorder HP:0000708 \| Behavioral problems HP:0002927 \| Histidinuria HP:0010906 \| Hyperhistidinemia HP:0001249 \| Mental retardation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0000546 \| Retinal degeneration \| 1 HP:0005261 \| Joint hemorrhage \| 1 HP:0000962 \| Hyperkeratosis \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0000855 \| Insulin resistance \| 1 HP:0002927 \| Histidinuria \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0010906 \| Hyperhistidinemia \| 1 HP:0002749 \| Osteomalacia \| 1 HP:0007893 \| Retinal degeneration, progressive \| 1

Disease ID	208
Disease	histidinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0037822 \| speech disorders C0037769 \| infantile spasms C0004936 \| mental disorders
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0220992 \| histidinemia \| 1

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

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434327	NA	3034	HAL	umls:C0220992	CLINVAR	NA	0.480814326	NA	HAL	12	95992778	C	T,G
rs121434328	NA	3034	HAL	umls:C0220992	CLINVAR	NA	0.480814326	NA	HAL	12	95992772	C	T,A
rs121434329	NA	3034	HAL	umls:C0220992	CLINVAR	NA	0.480814326	NA	HAL	12	95990472	G	A
rs121434330	NA	3034	HAL	umls:C0220992	CLINVAR	NA	0.480814326	NA	HAL	12	95987153	C	T,G

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:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002167	Neurological speech impairment	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000708	Behavioral abnormality	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0010906	Hyperhistidinemia	MP:0011654	increased urine histidine level	increased excretion of histidine and related imidazole metabolites in urine
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002927	Histidinuria	MP:0011654	increased urine histidine level	increased excretion of histidine and related imidazole metabolites in urine

Disease ID	208
Disease	histidinemia
Case	(Waiting for update.)

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