FECHTNER SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY
MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS
APSM, FORMERLY
FTNS
Number of Symptoms 22
OrphanetNr:
OMIM Id: 153640
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000123) Nephritis 18 / 7739
2
(HPO:0000093) Proteinuria 169 / 7739
3
(HPO:0000132) Menorrhagia 40 / 7739
4
(HPO:0000790) Hematuria 106 / 7739
5
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
6
(HPO:0000519) Congenital cataract 73 / 7739
7
(HPO:0000557) Buphthalmos 16 / 7739
8
(HPO:0001757) High-frequency sensorineural hearing impairment 67% [HPO] 7 / 7739
9
(HPO:0000978) Bruising susceptibility 123 / 7739
10
(HPO:0008264) Neutrophil inclusion bodies 3 / 7739
11
(HPO:0001892) Abnormal bleeding 85 / 7739
12
(HPO:0003010) Prolonged bleeding time 88 / 7739
13
(HPO:0001873) Thrombocytopenia 224 / 7739
14
(HPO:0001902) Giant platelets 11 / 7739
15
(OMIM) Leukocyte inclusion bodies (EM) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm 1 / 7739
16
(OMIM) Variable bleeding episodes 2 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Normal to prolonged bleeding time 2 / 7739
19
(OMIM) Leukocyte inclusion bodies (Dohle-like bodies) 2 / 7739
20
(OMIM) Normal platelet aggregation response to epinephrine, arachidonic acid (AA), adenosine 5'-diphosphate (ADP), collagen, and ristocetin 1 / 7739
21
(OMIM) Median mean platelet volume (MPV) 20fl 1 / 7739
22
(OMIM) Moderate to severe thrombocytopenia (30-90 x 10(9)/l) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Peterson et al. (1985) reported a family in which 8 members of 4 generations showed nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions in various combinations. The authors referred to the disorder as the 'Fechtner syndrome,' presumably from ...
Molecular genetics OMIM The May-Hegglin/Fechtner Syndrome Consortium (2000) identified 2 different mutations in the MYH9 gene (160775.0005-160775.0006) in patients with Fechtner syndrome. This same group identified other mutations in the MYH9 gene in probands from families with May-Hegglin anomaly and Sebastian ...