raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1984

Fechtner syndrome

inactive · moved to ORPHA:182050MYH9-related syndromic thrombocytopenia

Synonyms: Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Type
Clinical subtype
Group
Subtype of disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFechtner syndromeAlport syndrome with leukocyte inclusions and macrothrombocytopenia
frSyndrome de FechtnerSyndrome d'Alport avec inclusions leucocytaires et macrothrombocytopénie
deFechtner-SyndromAlport-Syndrom mit Leukozyteneinschlüssen und Makrothrombozytopenie
esSíndrome de Fechtner
itSindrome di FechtnerSindrome di Alport con inclusioni leucocitarie e macrotrombocitopenia
nlSyndroom van FechtnerSyndroom van Alport met leukocytinclusies en macrotrombocytopenie
ptSíndrome FechtnerSíndrome Alport com inclusões leucocitárias e macrotrombocitopenia
plZespół FechtneraZespół Alporta z wtrętami leukocytarnymi i makrotrombocytopenią
csFechtnerův syndromAlportův syndrom provázený makrotrombocytopenií a inkluzemi v leukocytech
ukСиндром ФехтнераСиндром Альпорта з лейкоцитарними включеннями та макротромбоцитопенією
zhFechtner综合征Alport综合征伴白细胞包涵体和巨血小板减少症
trFechtner sendromuLökosit inklüzyonları ve makrotrombositopeni ile seyreden Alport sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MeSHC537078Evalidated
UMLSC0403445Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card