Myelofibrosis with myeloid metaplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MMM, INCLUDED
Agnogenic myeloid metaplasia
Primary myelofibrosis
Idiopathic myelofibrosis
Myelosclerosis with myeloid metaplasia
Number of Symptoms 7
OrphanetNr: 824
OMIM Id: 254450
ICD-10: D47.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myeloproliferative neoplasm
 -Rare hematologic disease
 -Rare oncologic disease
Rare acquired medullar aplasia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005547) Myeloproliferative disorder 7 / 7739
2
(HPO:0011974) Myelofibrosis 6 / 7739
3
(OMIM) Reduced hemopoiesis 1 / 7739
4
(OMIM) Generalized bone marrow fibrosis 1 / 7739
5
(OMIM) No hemophagocytosis 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Myeloproliferative disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sieff and Malleson (1980) described a brother and sister who developed fulminant fatal myeloproliferative disease at 7 and 8 weeks of age. The bone marrow showed reduced hemopoiesis with generalized fibrosis. Although clinically resembling familial hemophagocytic reticulosis, the ...
Molecular genetics OMIM Baxter et al. (2005) and Kralovics et al. (2005) found that 50% (8 of 16) and 57% (13 of 23) of patients with idiopathic myelofibrosis, respectively, carried a somatic mutation in the JAK2 gene (V617F; 147796.0001).

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