eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dehydrated hereditary stomatocytosis | ||||
| Disease ID | 1730 |
|---|---|
| Disease | dehydrated hereditary stomatocytosis |
| Definition | A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. |
| Synonym | dehydrated hereditary stomatocytosis (disorder) dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis desiccytosis, hereditary dessicocytosis dhs1 hereditary xerocytosis pseudohyperkalemia edinburgh pseudohyperkalemia, familial, 1, due to red cell leak pshk1 xerocytosis xerocytosis (disorder) xerocytosis, hereditary |
| Orphanet | |
| OMIM | |
| UMLS | C0272051 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 1730 |
|---|---|
| Disease | dehydrated hereditary stomatocytosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1730 |
|---|---|
| Disease | dehydrated hereditary stomatocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0796095 | c syndrome |
| 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs200970763 | 23479567 | 9780 | PIEZO1 | umls:C0272051 | UNIPROT | Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. | 0.241357209 | 2013 | PIEZO1;LOC100289580 | 16 | 88733731 | C | T |
| rs202103485 | 23479567 | 9780 | PIEZO1 | umls:C0272051 | UNIPROT | Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. | 0.241357209 | 2013 | PIEZO1;LOC100289580 | 16 | 88733652 | C | T |
| rs587776987 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1;MIR4722 | 16 | 88716885 | A | C |
| rs587776988 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1;CTU2;MIR4722 | 16 | 88715804 | C | T |
| rs587776989 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1 | 16 | 88720175 | C | T |
| rs587776990 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1 | 16 | 88725505 | C | G |
| rs587776991 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1 | 16 | 88719665 | G | A |
| rs587776992 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1;CTU2 | 16 | 88715692 | - | AGCTCC |
| rs587777764 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1 | 16 | 88720174 | G | A |
| rs587777765 | NA | 9780 | PIEZO1 | umls:C0272051 | CLINVAR | NA | 0.241357209 | NA | PIEZO1 | 16 | 88727144 | G | A |
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 | 1730 |
|---|---|
| Disease | dehydrated hereditary stomatocytosis |
| Case | (Waiting for update.) |