Pyropoikilocytosis, hereditary

Preferred Label : Pyropoikilocytosis, hereditary;

Symbol : HPP;

CISMeF acronym : HPP;

Type : Phenotype, molecular basis known;

Description : Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).;

Inheritance : Autosomal recessive;

Prefixed ID : #266140;

Détails

Origin ID

266140;

UMLS CUI

C0520739;

Automatic exact mappings (from CISMeF team)
- Allopurinol [NCIt concept]
- HPP1 Gene [NCIt concept]
- Hypophosphatasia [ORDO Disease]
- N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium [MeSH concept]
- N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium [MeSH Supplementary Concept]
- N-succinimidyl-3-(4-hydroxyphenyl)propionate [MeSH concept]
- N-succinimidyl-3-(4-hydroxyphenyl)propionate [MeSH Supplementary Concept]
- Primary pulmonary hypertension [ICD-10 Sub-category]
- SPTA1 wt Allele [NCIt concept]
- allopurinol [MeSH Descriptor]
- familial hyperkalemic periodic paralysis [SNOMED Notion]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
- paralysis, hyperkalemic periodic [MeSH concept]
- postpartum hemorrhage [MeSH Descriptor]
- succinimido 3-(4-hydroxyphenyl)propionate [Substance BNPC]
Currated CISMeF NLP mapping
- Hereditary Pyropoikilocytosis [NCIt concept]
- Hereditary pyropoikilocytosis [ICD-11 More detail]
- Hereditary pyropoikilocytosis [ORDO Disease]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Piropoikilocytosis [PASCAL descriptor]
- Pyropoikilocytosis [HPO term]
- hereditary pyropoikilocytosis [Disease (Nov.)]
- hereditary pyropoikilocytosis [SNOMED Notion]
- pyropoikilocytosis, hereditary [MeSH concept]
- pyropoikilocytosis, hereditary [MeSH Supplementary Concept]
Genes related to phenotype
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elliptocytosis [HPO term]
- Hemolytic anemia [HPO term]
- Microspherocytosis [HPO term]
- Pyropoikilocytosis [HPO term]
ORDO concept(s)
- Hereditary pyropoikilocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Pyropoikilocytosis [NCIt concept]
- Hereditary pyropoikilocytosis [ORDO Disease]
- Hereditary pyropoikilocytosis [ICD-11 More detail]
- Hereditary pyropoikilocytosis [MedDRA LLT]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Piropoikilocytosis [PASCAL descriptor]
- Pyropoikilocytosis [HPO term]
- hereditary pyropoikilocytosis [SNOMED Notion]
- hereditary pyropoikilocytosis [Disease (Nov.)]
- pyropoikilocytosis, hereditary [MeSH Supplementary Concept]
- pyropoikilocytosis, hereditary [MeSH concept]

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