Anemia, and Bruising susceptibility

Diseases related with Anemia and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Anemia and Bruising susceptibility that can help you solving undiagnosed cases.


Top matches:

Medium match THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA


XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).

Related symptoms:

  • Cryptorchidism
  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

Medium match ALPHA DELTA GRANULE DEFICIENCY


Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.

ALPHA DELTA GRANULE DEFICIENCY Is also known as combined alpha-delta platelet storage pool deficiency|alpha dense granule deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALPHA DELTA GRANULE DEFICIENCY

Medium match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

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Other less relevant matches:

Medium match BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2


Related symptoms:

  • Splenomegaly
  • Thrombocytopenia
  • Bruising susceptibility
  • Hemolytic anemia
  • Abnormal bleeding


SOURCES: OMIM MENDELIAN

More info about BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2

Medium match BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME


Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME Is also known as xltt|thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME

Medium match ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME


Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

Medium match HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME


Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.

HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME Is also known as familial platelet disorder with associated myeloid malignancy|thrombocytopenia, autosomal dominant, 5|fps/aml syndrome|fpd/aml syndrome|familial platelet syndrome with predisposition to acute myelogenous leukemia|thrombocytopenia 5 with increased suscepti

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME

Medium match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Medium match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Medium match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Top 5 symptoms//phenotypes associated to Anemia and Bruising susceptibility

Symptoms // Phenotype % cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Epistaxis Common - Between 50% and 80% cases
Petechiae Common - Between 50% and 80% cases
Menorrhagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Bruising susceptibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased mean platelet volume Prolonged bleeding time Neutropenia Myelodysplasia Acute leukemia Splenomegaly Purpura Autoimmune thrombocytopenia Leukemia

Rare Symptoms - Less than 30% cases


Gingival bleeding Ecchymosis Hemolytic anemia Microcytic anemia Gastrointestinal hemorrhage Abnormal hemoglobin Abnormal platelet function Fatigue Hypospadias Acute lymphoblastic leukemia Absence of alpha granules Abnormal thrombocyte morphology Anisocytosis Intracranial hemorrhage Multiple myeloma Chronic myelomonocytic leukemia Hernia Umbilical hernia Internal hemorrhage Lymphoma Arterial thrombosis Thromboembolism Acute myeloid leukemia Cerebral hemorrhage Neuroblastoma Acute monocytic leukemia Anisopoikilocytosis Impaired platelet aggregation Abnormal blistering of the skin Refractory anemia Falls Patent ductus arteriosus Skin rash Anxiety Heterotopia Myelofibrosis Depressivity Reduced prothrombin consumption Abnormal platelet aggregation Increased mean corpuscular volume Cryptorchidism Colon cancer Stomatocytosis Acanthocytosis Anemia of inadequate production Poikilocytosis Macrothrombocytopenia Giant platelets Persistent bleeding after trauma Abnormal platelet morphology Congenital thrombocytopenia Absent radius Decreased mean platelet volume Hydronephrosis Hematuria Aplastic anemia Prolonged bleeding after dental extraction Neoplasm of the skin Hirsutism Postural instability Reticulocytosis Decreased mean corpuscular volume Myeloproliferative disorder Transient myeloproliferative syndrome Intellectual disability Immunodeficiency Dyspnea Hypochromic microcytic anemia Reduced alpha/beta synthesis ratio Hemoglobin H Neoplasm Cyclic neutropenia



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