Autoimmunity, and Thrombocytopenia

Diseases related with Autoimmunity and Thrombocytopenia

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


Top matches:

High match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low 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

Low match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

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Other less relevant matches:

Low match HELLP SYNDROME


Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

Low match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Low match X-LINKED HYPER-IGM SYNDROME


Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4|hyper-igm syndrome type 1|hyper-igm syndrome due to cd40l deficiency|higm1|xhigm|hyper-igm syndrome due to cd40 ligand deficiency

Related symptoms:

  • Immunodeficiency
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent upper respiratory tract infections
  • Myelodysplasia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED HYPER-IGM SYNDROME

Low match HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE


Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF ) inhibitors may be beneficial (summary by Zhou et al., 2016).

HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE Is also known as behÇet-like disease due to haploinsufficiency of a20|behÇet-like disease due to ha20

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Skin rash
  • Hemolytic anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE

Low match COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD


COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

Low match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Low match IMMUNE THROMBOCYTOPENIC PURPURA


Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.

IMMUNE THROMBOCYTOPENIC PURPURA Is also known as idiopathic thrombocytopenic purpura|immune thrombocytopenia|immune thrombocytopenic purpura|thrombocytopenic purpura, autoimmune|itp

Related symptoms:

  • Immunodeficiency
  • Thrombocytopenia
  • Autoimmunity
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNE THROMBOCYTOPENIC PURPURA

Top 5 symptoms//phenotypes associated to Autoimmunity and Thrombocytopenia

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Hypertension Rare - less than 30% cases
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Other less frequent symptoms

Patients with Autoimmunity and Thrombocytopenia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Skin rash Purpura Lymphocytosis Cerebral hemorrhage Antinuclear antibody positivity Leukemia Systemic lupus erythematosus Lymphadenopathy Hemolytic anemia Inflammation of the large intestine Neoplasm Lymphopenia Abnormal thrombocyte morphology Recurrent bacterial infections Bruising susceptibility Hematuria Abnormal bleeding Anterior uveitis Genital ulcers Lupus anticoagulant Polyarticular arthritis Impaired Ig class switch recombination Oral ulcer Diabetes mellitus Uveitis Episodic fever Autoimmune hemolytic anemia Colitis Absence of lymph node germinal center Recurrent infection of the gastrointestinal tract Chronic active hepatitis Hepatitis Immune dysregulation Arterial thrombosis Gingival bleeding Thromboembolism Petechiae Epistaxis Gastrointestinal hemorrhage Cervical lymphadenopathy Decreased mean platelet volume Elevated erythrocyte sedimentation rate Nephrotic syndrome Eosinophilia Vasculitis Asthma Pneumonia Failure to thrive Decreased serum complement C4b Myelodysplasia Complement deficiency Meningitis Osteomyelitis Convex nasal ridge Recurrent upper respiratory tract infections Lymphoma Chronic lymphatic leukemia Lymphoproliferative disorder B-cell lymphoma Acute leukemia Hodgkin lymphoma Hyperthyroidism Rheumatoid arthritis Neurodegeneration Lung adenocarcinoma Arthritis Splenomegaly Increased mean platelet volume Aplastic anemia Menorrhagia Hydronephrosis Abnormal erythrocyte morphology Leukopenia Cellular immunodeficiency Non-Hodgkin lymphoma Bronchiectasis Growth delay Bird-like facies B lymphocytopenia Decrease in T cell count Recurrent viral infections Sloping forehead Decreased antibody level in blood Bulbous nose Microcephaly Seizures Maternal hypertension Eclampsia Preeclampsia Proteinuria Elevated hepatic transaminase Renal insufficiency Edema Intrauterine growth retardation Platelet antibody positive



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