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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hereditary elliptocytosis
  

Disease ID 362
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
DOID
ICD10
UMLS
C0013902
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0024530  |  malaria  |  1
C0031069  |  familial mediterranean fever  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:8)
6521  |  SLC4A1  |  CTD_human;UniProtKB-KW;UNIPROT
6708  |  SPTA1  |  ORPHANET;UniProtKB-KW
9949  |  AMMECR1  |  UniProtKB-KW
2182  |  ACSL4  |  UniProtKB-KW
6710  |  SPTB  |  CTD_human;ORPHANET;UniProtKB-KW
286  |  ANK1  |  UniProtKB-KW
2035  |  EPB41  |  ORPHANET;UNIPROT;UniProtKB-KW
2995  |  GYPC  |  ORPHANET
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
6521  |  SLC4A1  |  CIPHER;CTD_human
6710  |  SPTB  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:28)
120  |  ADD3  |  2.079  |  DISEASES
617  |  BCS1L  |  1.265  |  DISEASES
961  |  CD47  |  1.525  |  DISEASES
922  |  CD5L  |  6.827  |  DISEASES
1325  |  CORT  |  1.285  |  DISEASES
1378  |  CR1  |  1.907  |  DISEASES
1785  |  DNM2  |  2.233  |  DISEASES
2035  |  EPB41  |  7.293  |  DISEASES
2036  |  EPB41L1  |  2.779  |  DISEASES
23136  |  EPB41L3  |  3.737  |  DISEASES
29933  |  GPR132  |  1.449  |  DISEASES
2987  |  GUK1  |  2.379  |  DISEASES
2993  |  GYPA  |  4.438  |  DISEASES
2994  |  GYPB  |  1.77  |  DISEASES
2996  |  GYPE  |  1.489  |  DISEASES
3386  |  ICAM4  |  2.76  |  DISEASES
3792  |  KEL  |  2.111  |  DISEASES
987  |  LRBA  |  2.294  |  DISEASES
5277  |  PIGA  |  1.102  |  DISEASES
6005  |  RHAG  |  3.579  |  DISEASES
57515  |  SERINC1  |  2.949  |  DISEASES
6522  |  SLC4A2  |  3.622  |  DISEASES
388588  |  SMIM1  |  3.085  |  DISEASES
23626  |  SPO11  |  2.743  |  DISEASES
6708  |  SPTA1  |  6.839  |  DISEASES
6710  |  SPTB  |  4.912  |  DISEASES
339967  |  TMPRSS11A  |  3.777  |  DISEASES
7485  |  WRB  |  2.263  |  DISEASES
Locus
Symbol | Locus(Total Locus:4)
GYPC  |  2q14.3
SPTA1  |  1q23.1
SPTB  |  14q23.3
EPB41  |  1p35.3
Disease ID 362
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 362
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.)
Text Mining Genotype(Total 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
rs121912748170279186521SLC4A1umls:C0013902BeFreeCompound heterozygous anion exchanger 1 (AE1) SAO/G701D mutations result in distal renal tubular acidosis with Southeast Asian ovalocytosis.0.1242671252006SLC4A11744253327CT
rs20003310523283191384CRATumls:C0013902BeFreeHereditary 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.0.0002714421990CRAT9129108025CT
rs20003310523283197368UGT8umls:C0013902BeFreeHereditary 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.0.0002714421990CRAT9129108025CT
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 362
Disease hereditary elliptocytosis
Case(Waiting for update.)