Spherocytosis, type 1

Preferred Label : Spherocytosis, type 1;

Symbol : SPH1;

CISMeF acronym : HS; HS1; SPH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherocytosis, hereditary, 1; HS1; HS; Sph;

Description : Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. - Genetic Heterogeneity of Hereditary Spherocytosis Also see spherocytosis type 2 (see 182870), caused by mutation in the;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the ankyrin 1 gene (ANK1, 612641.0001);

Laboratory abnormalities : Increased reticulocyte count; Hyperbilirubinemia; Increased osmotic fragility; Negative direct antiglobulin (Coombs) test; Elevated MCHC;

Prefixed ID : #182900;

Details

Origin ID

182900;

UMLS CUI

C2674218;

Automatic exact mappings (from CISMeF team)
- ANK1 wt Allele [NCIt concept]
- Diamorphine [LOINC component]
- EEF1A2 wt Allele [NCIt concept]
- H Ab [LOINC component]
- H NOS Ab [LOINC component]
- H NOS Ag [LOINC component]
- H+ (tumor staging) [SNOMED CT concept]
- Hecto [NCIt concept]
- Henry [NCIt concept]
- Hinman syndrome [ORDO Disease]
- Hormone replacement therapy (procedure) [SNOMED CT concept]
- Hour [NCIt concept]
- Hour Of Sleep [NCIt concept]
- Hydrogen ion [LOINC component]
- Lower case Roman letter h (qualifier value) [SNOMED CT concept]
- MAP3K14 wt Allele [NCIt concept]
- Non-neurogenic neurogenic bladder [ICD-11 More detail]
- Proton (substance) [SNOMED CT concept]
- SNCAIP wt Allele [NCIt concept]
- Synphilin-1 [NCIt concept]
- Upper case Roman letter H (qualifier value) [SNOMED CT concept]
- YWHAQ wt Allele [NCIt concept]
- ankyrin 1 [ORDO Gene]
- ankyrin 1 [HGNC gene]
- eukaryotic translation elongation factor 1 alpha 2 [ORDO Gene]
- hemorrhagic septicemia [MeSH concept]
- hemorrhagic septicemia [MeSH Descriptor]
- hemorrhagic septicemia due to pasteurella multocida [SNOMED Notion]
- hereditary spherocytosis type 1 [DO Concept]
- hospitals, special [CISMeF resources Type]
- hospitals, special [MeSH Descriptor]
- mitogen-activated protein kinase kinase kinase 14 [ORDO Gene]
- per hour (qualifier value) [SNOMED CT concept]
Broader ORDO disease(s)
- Hereditary spherocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- spherocytosis, type 1 [MeSH concept]
- spherocytosis, type 1 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spherocytosis type 1 [DO Concept]
Genes related to phenotype
- Ankyrin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Cholelithiasis [HPO term]
- Hemolytic anemia [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Juvenile onset [HPO term]
- Neonatal onset [HPO term]
- Reticulocytosis [HPO term]
- Spherocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spherocytosis, type 1 [MeSH Supplementary Concept]
- spherocytosis, type 1 [MeSH concept]

Keyword's position in hierarchy(ies) :

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