Fechtner syndrome

Preferred Label : Fechtner syndrome;

Obsolete resource : true;

Moved to : 155100;

Symbol : FTNS;

CISMeF acronym : APSM; FTNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; Alport syndrome with macrothrombocytopenia; APSM;

Description : Fechtner syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts (Peterson et al., 1985). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Fechtner syndrome. May-Hegglin anomaly (155100) is characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome (153650) has the platelet defect, deafness, and nephritis, but does not have cataract and lacks leukocyte inclusion bodies on classic staining of peripheral blood smears. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (see 301050). Sebastian syndrome (605249) is similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (600208) and a form of nonsyndromic deafness (DFNA17; 603622), are also caused by mutation in the MYH9 gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy chain 9, non-muscle gene (myh9,160775.0005);

Laboratory abnormalities : Proteinuria; Hematuria; Leukocyte inclusion bodies (em) - intermediate filaments and ribosomeclusters irregularly dispersed in cytoplasm; Moderate to severe thrombocytopenia (30-90 x 10(9)/l); Normal to prolonged bleeding time; Median mean platelet volume (mpv) 20fl; Normal platelet aggregation response to epinephrine, arachidonic acid(aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin;

Prefixed ID : 153640;

Details

Origin ID

153640;

UMLS CUI

C0403445;

Automatic exact mappings (from CISMeF team)
- MYH9 wt Allele [NCIt concept]
- myosin heavy chain 9 [HGNC gene]
Currated CISMeF NLP mapping
- Fechtner Syndrome [NCIt concept]
- Fechtner syndrome [PASCAL descriptor]
- Fechtner syndrome [ICD-11 More detail]
- Fechtner syndrome [ORDO Disease]
- Fechtner syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bruising susceptibility [HPO term]
- Developmental cataract [HPO term]
- Giant platelets [HPO term]
- Hematuria [HPO term]
- High-frequency sensorineural hearing impairment [HPO term]
- Leukocyte inclusion bodies [HPO term]
- Leukocyte inclusion bodies (Dohle-like bodies) [HPO term]
- Menorrhagia [HPO term]
- Moderate-to-severe thrombocytopenia [HPO term]
- Nephritis [HPO term]
- Neutrophil inclusion bodies [HPO term]
- Prolonged bleeding time [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thrombocytopenia [HPO term]
- severe thrombocytopenia [HPO term]
ORDO concept(s)
- Fechtner syndrome [ORDO Disease]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fechtner Syndrome [NCIt concept]
- Fechtner syndrome [ORDO Disease]
- Fechtner syndrome [ICD-11 More detail]
- Fechtner syndrome [PASCAL descriptor]
- Fechtner syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients