MCID: FCH003
MIFTS: 38

Fechtner Syndrome

Categories: Genetic diseases, Blood diseases, Ear diseases

Aliases & Classifications for Fechtner Syndrome

MalaCards integrated aliases for Fechtner Syndrome:

Name: Fechtner Syndrome 53 72 71 28 13 51 69
Ftns 53 71
Macrothrombocytopenia, Nephritis, Deafness, and Leukocyte Inclusions 53
Alport Syndrome with Macrothrombocytopenia, Formerly; Apsm, Formerly 53
Alport Syndrome with Macrothrombocytopenia, Formerly 53
Sebastian Syndrome 69
Apsm, Formerly 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to may-heglin anomaly , sebastian syndrome , epstein syndrome , and deafness, autosomal dominant 17


HPO:

31
fechtner syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fechtner Syndrome

OMIM : 53 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. (153640)

MalaCards based summary : Fechtner Syndrome, also known as ftns, is related to epstein syndrome and sebastian syndrome, and has symptoms including proteinuria, thrombocytopenia and hematuria. An important gene associated with Fechtner Syndrome is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. Affiliated tissues include eye and kidney.

UniProtKB/Swiss-Prot : 71 Fechtner syndrome: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis.

Wikipedia : 72 Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... more...

Related Diseases for Fechtner Syndrome

Diseases related to Fechtner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epstein syndrome 11.4
2 sebastian syndrome 11.4
3 may-hegglin anomaly 11.3
4 alport syndrome, autosomal dominant 11.3
5 myh9 related thrombocytopenia 11.1
6 alport syndrome, x-linked 9.8
7 glomerulonephritis 9.8

Graphical network of the top 20 diseases related to Fechtner Syndrome:



Diseases related to Fechtner Syndrome

Symptoms & Phenotypes for Fechtner Syndrome

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
proteinuria
hematuria
leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm
moderate to severe thrombocytopenia (30-90 x 10(9)/l)
normal to prolonged bleeding time
more
Genitourinary Kidneys:
nephritis
end stage renal disease (20-40 years)(28% of patients)

Head And Neck Eyes:
congenital cataracts
juvenile glaucoma

Hematology:
thrombocytopenia
giant platelets
leukocyte inclusion bodies (dohle-like bodies)
variable bleeding episodes (menorrhagia, easy bruisability, postoperative hemorrhage)

Head And Neck Ears:
high-tone sensorineural deafness (67% of patients)


Clinical features from OMIM:

153640

Human phenotypes related to Fechtner Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 thrombocytopenia 31 HP:0001873
3 hematuria 31 HP:0000790
4 bruising susceptibility 31 HP:0000978
5 prolonged bleeding time 31 HP:0003010
6 menorrhagia 31 HP:0000132
7 stage 5 chronic kidney disease 31 HP:0003774
8 congenital cataract 31 HP:0000519
9 high-frequency sensorineural hearing impairment 31 very rare (1%) HP:0001757
10 nephritis 31 HP:0000123
11 giant platelets 31 HP:0001902
12 leukocyte inclusion bodies 31 HP:0040235

Drugs & Therapeutics for Fechtner Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Fechtner Syndrome

Genetic Tests for Fechtner Syndrome

Genetic tests related to Fechtner Syndrome:

# Genetic test Affiliating Genes
1 Fechtner Syndrome 28 MYH9

Anatomical Context for Fechtner Syndrome

MalaCards organs/tissues related to Fechtner Syndrome:

38
Eye, Kidney

Publications for Fechtner Syndrome

Articles related to Fechtner Syndrome:

(show all 23)
# Title Authors Year
1
A patient with Fechtner syndrome successfully treated with romiplostim. ( 22273764 )
2012
2
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. ( 20200500 )
2010
3
Fechtner syndrome--a myosin heavy chain 9 disorder--and pregnancy. ( 20178880 )
2010
4
[Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. ( 18718080 )
2008
5
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). ( 17655694 )
2007
6
[Clinical and molecular study on Fechtner syndrome--case report and literature review]. ( 17649707 )
2007
7
Overexpressed platelet integrin alphaIIbbeta3 in a Fechtner syndrome patient uneventfully undergoing adenotomy. ( 17205288 )
2007
8
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). ( 12500226 )
2003
9
MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. ( 12792306 )
2003
10
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. ( 12649151 )
2003
11
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. ( 11752022 )
2002
12
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )
2002
13
Perioperative management of a patient with Fechtner syndrome. ( 11529472 )
2001
14
A pregnancy complicated with Fechtner syndrome: a case report. ( 10997559 )
2000
15
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. ( 11071640 )
2000
16
Fechtner syndrome: physiologic analysis of macrothrombocytopenia. ( 10870804 )
2000
17
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. ( 11093280 )
2000
18
End-stage renal disease in two pediatric patients with Fechtner syndrome. ( 10603121 )
1999
19
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. ( 10577925 )
1999
20
Fechtner syndrome variant: a new family with mild Alport's manifestations. ( 8043458 )
1994
21
Fechtner syndrome: report of a third family and literature review. ( 8280620 )
1993
22
Fechtner syndrome: clinical and genetic aspects. ( 3232700 )
1988
23
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. ( 2981587 )
1985

Variations for Fechtner Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Fechtner Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg702Cys VAR_010792 rs80338826
2 MYH9 p.Thr1155Ile VAR_010794 rs121913656
3 MYH9 p.Arg1165Cys VAR_010795 rs80338829
4 MYH9 p.Asp1424His VAR_010796 rs80338831
5 MYH9 p.Glu1841Lys VAR_010797 rs80338834
6 MYH9 p.Arg1165Leu VAR_018313 rs80338830
7 MYH9 p.Asp1424Asn VAR_018316 rs80338831
8 MYH9 p.Lys910Gln VAR_044226 rs554332083

ClinVar genetic disease variations for Fechtner Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter) single nucleotide variant Pathogenic rs80338835 GRCh37 Chromosome 22, 36678800: 36678800
2 MYH9 NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys) single nucleotide variant Pathogenic rs80338834 GRCh37 Chromosome 22, 36680520: 36680520
3 MYH9 NM_002473.5(MYH9): c.4270G> C (p.Asp1424His) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
4 MYH9 NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile) single nucleotide variant Pathogenic rs121913656 GRCh37 Chromosome 22, 36691572: 36691572
5 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
6 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
7 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106

Expression for Fechtner Syndrome

Search GEO for disease gene expression data for Fechtner Syndrome.

Pathways for Fechtner Syndrome

Pathways related to Fechtner Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 MYH9 MYL7
2
Show member pathways
12.32 MYH9 MYL7
3
Show member pathways
12.24 MYH9 MYL7
4
Show member pathways
12.15 MYH9 MYL7
5
Show member pathways
11.81 MYH9 MYL7
6 11.71 MYH9 MYL7
7
Show member pathways
11.43 MYH9 MYL7
8
Show member pathways
11.34 MYH9 MYL7
9
Show member pathways
10.97 MYH9 MYL7

GO Terms for Fechtner Syndrome

Cellular components related to Fechtner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.62 MYH9 MYL7

Sources for Fechtner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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