Orphanet: Glanzmann thrombasthenia

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Glanzmann thrombasthenia

Disease definition

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

ORPHA:849

Classification level: Disorder

Synonym(s): -
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: D69.1
ICD-11: 3B62.0Y
OMIM: 273800 619267
UMLS: C0040015
MeSH: -
GARD: 2478
MedDRA: -

A summary on this disease is available in Português (2003) Deutsch (2006) Français (2006) Italiano (2006) Español (2014) Nederlands (2014)

Detailed information

Guidelines

Emergency guidelines
Italiano (2012, pdf) - Orphanet Urgences
Français (2022, pdf) - Orphanet Urgences

Clinical practice guidelines
Deutsch (2012) - AWMF
Français (2019) - PNDS

Anesthesia guidelines
English (2022) - Orphananesthesia

Disease review articles

Review article
English (2006) - Orphanet J Rare Dis

Genetic Testing

Guidance for genetic testing
English (2012) - Eur J Hum Genet

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

Newborn screening

Newborn screening library

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.