Abnormality of the skeletal system, and Pancytopenia

Diseases related with Abnormality of the skeletal system and Pancytopenia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Pancytopenia that can help you solving undiagnosed cases.


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Low match IDIOPATHIC APLASTIC ANEMIA


Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).

IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure

Related symptoms:

  • Anemia
  • Bone marrow hypocellularity
  • Aplastic anemia
  • Hemophagocytosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about IDIOPATHIC APLASTIC ANEMIA

Low match AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA


Autosomal dominant aplasia and myelodysplasia is a rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.

AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA Is also known as autosomal dominant aplastic anemia and myelodysplasia

Related symptoms:

  • Hearing impairment
  • Anemia
  • Pancytopenia
  • Bone marrow hypocellularity
  • Myelodysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA

Low match NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY


Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.

Related symptoms:

  • Anemia
  • Fatigue
  • Splenomegaly
  • Abnormality of metabolism/homeostasis
  • Jaundice


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY

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Other less relevant matches:

Low match INTERMEDIATE OSTEOPETROSIS


Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive, intermediate form

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Pancytopenia
  • Increased bone mineral density


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTERMEDIATE OSTEOPETROSIS

Low match COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY


Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Low match PRIMARY MYELOFIBROSIS


Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

PRIMARY MYELOFIBROSIS Is also known as myelofibrosis with myeloid metaplasia|idiopathic myelofibrosis|agnogenic myeloid metaplasia|osteomyelofibrosis

Related symptoms:

  • Fever
  • Fatigue
  • Splenomegaly
  • Hepatosplenomegaly
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MYELOFIBROSIS

Low match THIOPURINES, POOR METABOLISM OF, 1; THPM1


THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency|tpmt deficiency|tpmtd

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Autoimmunity
  • Leukemia
  • Pancytopenia
  • Bone marrow hypocellularity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3


Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Nail dysplasia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3

Low match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5


Related symptoms:

  • Anemia
  • Hypertension
  • Hepatomegaly
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3


Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3

Related symptoms:

  • Anemia
  • Fever
  • Hepatosplenomegaly
  • Pancytopenia
  • Hypertriglyceridemia


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Pancytopenia

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Hemophagocytosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Pancytopenia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Jaundice Abnormality of metabolism/homeostasis Fever Fatigue Aplastic anemia Oral leukoplakia Pancreatitis Leukopenia Glomerulonephritis Abnormality of blood and blood-forming tissues Acute lymphoblastic leukemia Neoplasm Carcinoma Nail dystrophy Abnormality of skin pigmentation Nail dysplasia Squamous cell carcinoma Pulmonary fibrosis Squamous cell carcinoma of the tongue Autoimmunity Hypertension Hepatomegaly Elevated hepatic transaminase Abnormality of the liver Hepatic failure Hepatic fibrosis Portal hypertension Abnormality of the coagulation cascade Iron deficiency anemia Hypertriglyceridemia Decreased liver function Abnormality of coagulation Granulocytopenia Hypofibrinogenemia Leukemia Myelofibrosis Myelodysplasia Pain Lethargy Hemolytic anemia Hyperbilirubinemia Cholelithiasis Prolonged neonatal jaundice Reticulocytosis Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Normochromic anemia Chronic hemolytic anemia Seizures Short stature Increased bone mineral density Myeloproliferative disorder Hypocalcemia Osteopetrosis Erlenmeyer flask deformity of the femurs Cortical sclerosis Dense metaphyseal bands Immunodeficiency Respiratory tract infection Sarcoma Coombs-positive hemolytic anemia Kaposi's sarcoma Hearing impairment Pallor Purpura Reduced natural killer cell activity



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