MAY-HEGGLIN ANOMALY

General Information (adopted from Orphanet):

Synonyms, Signs: MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS
BDPLT6
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS
BLEEDING DISORDER, PLATELET-TYPE, 6
MHA
Number of Symptoms 16
OrphanetNr:
OMIM Id: 155100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0000978) Bruising susceptibility 123 / 7739
4
(HPO:0001658) Myocardial infarction 30 / 7739
5
(HPO:0001873) Thrombocytopenia 224 / 7739
6
(HPO:0001977) Abnormal thrombosis 11 / 7739
7
(HPO:0001902) Giant platelets 11 / 7739
8
(HPO:0003010) Prolonged bleeding time 88 / 7739
9
(HPO:0008264) Neutrophil inclusion bodies 3 / 7739
10
(OMIM) Normal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin 1 / 7739
11
(OMIM) No kidney disease 3 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia) 1 / 7739
14
(OMIM) Sky-blue leukocyte inclusion bodies (Dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments 1 / 7739
15
(OMIM) Thrombocytopenia, mild-moderate (60-100 x 10(9)/L) 1 / 7739
16
(OMIM) Median mean platelet volume (MPV) 12.5fL 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) May-Hegglin anomaly is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. About 25 to 50% of affected individuals have mild to moderate episodic bleeding (summary by ...
Clinical Description OMIM May (1909) described inclusion bodies in granulocytes from the peripheral blood of an asymptomatic 24-year-old woman. Hegglin (1945) observed the triad of thrombocytopenia, giant platelets, and inclusion bodies in the leukocytes in 2 generations of a family. The ...
Molecular genetics OMIM The May-Hegglin/Fechtner Syndrome Consortium (2000) identified 6 MYH9 mutations in 7 unrelated probands with one or another of the 3 autosomal dominant giant platelet disorders: May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. Kelley et al. (2000) likewise identified ...