Storage pool disease of platelets

MedGen UID:: 19351
•Concept ID:: C0032197
•: Disease or Syndrome

Synonyms:	Platelet storage pool deficiency; Platelet storage pool diseases; Storage pool platelet disease
SNOMED CT:	Platelet storage organelle defect (128099001); Nucleotide storage pool disorder (9417000); Platelet dense granule deficiency (9417000); Delta storage pool disease (9417000); Platelet storage pool defect (128099001); Dense body deficiency (9417000); Dense body defect (234474009); Storage pool deficiency (234474009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008495
OMIM®:	185050
Orphanet:	ORPHA734

Definition

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. [from ORDO]

Clinical features

From HPO

Myelodysplasia

MedGen UID:: 10231
•Concept ID:: C0026985
•: Congenital Abnormality

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.

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Acute leukemia

MedGen UID:: 43225
•Concept ID:: C0085669
•: Neoplastic Process

A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).

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Prolonged bleeding time

MedGen UID:: 56231
•Concept ID:: C0151529
•: Finding

Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.

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Decreased mean platelet volume

MedGen UID:: 853132
•Concept ID:: C1096368
•: Finding

Average platelet volume below the lower limit of the normal reference interval.

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Abnormal bleeding

MedGen UID:: 264316
•Concept ID:: C1458140
•: Pathologic Function

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

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