Alpha delta granule deficiency

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Alpha delta granule deficiency

ORPHA:734Disease

Also called Alpha dense granule deficiency · Combined alpha-delta platelet storage pool deficiency

What it is

A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.

Key facts

Age of onset
Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Gene

GFI1BDisease-causing germline mutation(s)

ICD-10 codes

D69.1filed under a broader ICD-10 category — shared with 14 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 5034MONDO 0008495OMIM 185050UMLS C5680090

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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