PedAM

Pediatric Disease Annotations & Medicines


	hereditary elliptocytosis

Disease ID	207
Disease	hereditary elliptocytosis
Definition	An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
Synonym	congenital elliptocytosis congenital elliptocytosis (disorder) congenital elliptocytosis, nos congenital ovalocytosis congenital ovalocytosis, nos elliptocytoses, hereditary elliptocytosis elliptocytosis hereditary elliptocytosis, hereditary elliptocytosis, hereditary [disease/finding] he - hereditary elliptocytosis heredit elliptocytosis hereditary elliptocytoses hereditary elliptocytosis (disorder) hereditary elliptocytosis (disorder) [ambiguous] hereditary elliptocytosis, nos hereditary ovalocytoses hereditary ovalocytosis hereditary ovalocytosis, nos ovalocytoses, hereditary ovalocytosis ovalocytosis, hereditary
Orphanet	ORPHANET:288
DOID	DOID:2373
ICD10	ICD10CM:D58.1
UMLS	C0013902
MeSH	D004612
SNOMED-CT	SNOMEDCT_US_2016_09_01:178935009;SNOMEDCT_US_2016_09_01:191169008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0031069 \| familial mediterranean fever \| 1 C0024530 \| malaria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) ACSL4 \| 2182 \| UniProtKB-KW SPTA1 \| 6708 \| ORPHANET;UniProtKB-KW AMMECR1 \| 9949 \| UniProtKB-KW GYPC \| 2995 \| ORPHANET SLC4A1 \| 6521 \| CTD_human;UniProtKB-KW SPTB \| 6710 \| CTD_human;ORPHANET;UniProtKB-KW EPB41 \| 2035 \| ORPHANET;UniProtKB-KW ANK1 \| 286 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6521 \| SLC4A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 3049 \| HBQ1 \| DISEASES 55644 \| OSGEP \| DISEASES 2936 \| GSR \| DISEASES 708 \| C1QBP \| DISEASES 5341 \| PLEK \| DISEASES 6939 \| TCF15 \| DISEASES 6779 \| STATH \| DISEASES 821 \| CANX \| DISEASES 29108 \| PYCARD \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 2995 \| GYPC \| DISEASES 8482 \| SEMA7A \| DISEASES 6521 \| SLC4A1 \| DISEASES 5976 \| UPF1 \| DISEASES 119 \| ADD2 \| DISEASES 118 \| ADD1 \| DISEASES 286 \| ANK1 \| DISEASES 6508 \| SLC4A3 \| DISEASES 197131 \| UBR1 \| DISEASES 3046 \| HBE1 \| DISEASES 6006 \| RHCE \| DISEASES 338323 \| NLRP14 \| DISEASES 2038 \| EPB42 \| DISEASES 124872 \| B4GALNT2 \| DISEASES 9780 \| PIEZO1 \| DISEASES 189 \| AGXT \| DISEASES 7485 \| WRB \| DISEASES 29933 \| GPR132 \| DISEASES 339967 \| TMPRSS11A \| DISEASES 2036 \| EPB41L1 \| DISEASES 23136 \| EPB41L3 \| DISEASES 3386 \| ICAM4 \| DISEASES 57515 \| SERINC1 \| DISEASES 2035 \| EPB41 \| DISEASES 3792 \| KEL \| DISEASES 1785 \| DNM2 \| DISEASES 120 \| ADD3 \| DISEASES 987 \| LRBA \| DISEASES 2996 \| GYPE \| DISEASES 617 \| BCS1L \| DISEASES 2993 \| GYPA \| DISEASES 961 \| CD47 \| DISEASES 2987 \| GUK1 \| DISEASES 1378 \| CR1 \| DISEASES 6708 \| SPTA1 \| DISEASES 922 \| CD5L \| DISEASES 6005 \| RHAG \| DISEASES 23626 \| SPO11 \| DISEASES 1325 \| CORT \| DISEASES 5277 \| PIGA \| DISEASES 6710 \| SPTB \| DISEASES 6522 \| SLC4A2 \| DISEASES 2994 \| GYPB \| DISEASES 388588 \| SMIM1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) GYPC \| 2q14.3 SPTA1 \| 1q23.1 SPTB \| 14q23.3 EPB41 \| 1p35.3

Disease ID	207
Disease	hereditary elliptocytosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0004839 \| hereditary pyropoikilocytosis \| 1 HP:0001945 \| Fever \| 1

Disease ID	207
Disease	hereditary elliptocytosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0033626 \| protein deficiencies C0021345 \| infectious mononucleosis C0002878 \| hemolytic anemia C0002871 \| anaemia
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912748	17027918	6521	SLC4A1	umls:C0013902	BeFree	Compound heterozygous anion exchanger 1 (AE1) SAO/G701D mutations result in distal renal tubular acidosis with Southeast Asian ovalocytosis.	0.124267125	2006	SLC4A1	17	44253327	C	T
rs200033105	2328319	1384	CRAT	umls:C0013902	BeFree	Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.	0.000271442	1990	CRAT	9	129108025	C	T
rs200033105	2328319	7368	UGT8	umls:C0013902	BeFree	Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.	0.000271442	1990	CRAT	9	129108025	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.)

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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