Autosomal dominant macrothrombocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr: 140957
OMIM Id: 187800
613112
615193
ICD-10: D69.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited giant platelet disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000967) Petechiae 26 / 7739
2
 (HPO:0001903) Anemia 289 / 7739
3
 (HPO:0003540) Impaired platelet aggregation 17 / 7739
4
 (HPO:0001902) Giant platelets 11 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: