Familial platelet syndrome with predisposition to acute myelogenous leukemia

General Information (adopted from Orphanet):

Synonyms, Signs: PLATELET DISORDER, ASPIRIN-LIKE
THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA
FPD/AML
FPDMM
FPS/AML syndrome
FPD/AML syndrome
Familial platelet syndrome
Familial platelet disorder with associated myeloid malignancy
Number of Symptoms 15
OrphanetNr: 71290
OMIM Id: 601399
ICD-10: D69.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dense granule disease
 -Rare genetic disease
 -Rare hematologic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis 85 / 7739
2
 (HPO:0003006) Neuroblastoma 16 / 7739
3
 (HPO:0000978) Bruising susceptibility 123 / 7739
4
 (HPO:0003010) Prolonged bleeding time 88 / 7739
5
 (HPO:0002665) Lymphoma 60 / 7739
6
 (HPO:0002863) Myelodysplasia 30 / 7739
7
 (HPO:0001873) Thrombocytopenia 224 / 7739
8
 (HPO:0003540) Impaired platelet aggregation 17 / 7739
9
 (HPO:0004845) Acute monocytic leukemia 5 / 7739
10
 (HPO:0004808) Acute myeloid leukemia 14 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (MedDRA:10060221) Platelet morphology normal 3 / 7739
13
 (OMIM) Lymphosarcoma 2 / 7739
14
 (OMIM) Normal platelet size 2 / 7739
15
 (MedDRA:10052178) Lymphocytic lymphoma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dowton et al. (1985) described a large pedigree with an autosomal dominant familial 'aspirin-like' platelet disorder associated with the development of acute myelogenous leukemia (AML).

Arepally et al. (1998) reported a family of mixed Czechoslovakian and ...
Molecular genetics OMIM By mutational analysis of candidate genes in the region where this familial platelet disorder maps, Song et al. (1999) found a heterozygous mutation in each of 6 affected families in the hematopoietic transcription factor CBFA2 (see, e.g., 151385.0001; ...