Anemia, and Arthritis

Diseases related with Anemia and Arthritis

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


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE


Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as early-onset hyperuricemia, anemia, and progressive kidney failure|ren-associated fjhn|ren-associated kidney disease|familial juvenile hyperuricemic nephropathy type 2|ren-associated familial juvenile hyperuricemic nephropathy|adtkd-ren|fjhn type 2

Related symptoms:

  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Renal cyst


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

Low match HYPERZINCEMIA AND HYPERCALPROTECTINEMIA


Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

HYPERZINCEMIA AND HYPERCALPROTECTINEMIA Is also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome|albumin binding of zinc, elevated|hyperzincemia, familial dysalbuminemic

Related symptoms:

  • Growth delay
  • Anemia
  • Recurrent infections
  • Abnormality of metabolism/homeostasis
  • Hepatosplenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERZINCEMIA AND HYPERCALPROTECTINEMIA

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Other less relevant matches:

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

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

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Top 5 symptoms//phenotypes associated to Anemia and Arthritis

Symptoms // Phenotype % cases
Recurrent infections Uncommon - Between 30% and 50% cases
Gout Uncommon - Between 30% and 50% cases
Hyperuricemia Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm

Rare Symptoms - Less than 30% cases


Focal segmental glomerulosclerosis Renal insufficiency Congestive heart failure Splenomegaly Abnormality of the liver Cirrhosis Systemic lupus erythematosus Chronic kidney disease Lymphoma Hepatomegaly Hematuria Hepatosplenomegaly Pallor Nephropathy Renal cyst Rheumatoid arthritis Scarring Myopia Fatigue Pneumonia Nyctalopia Depressivity Hypothyroidism Edema Fever Global developmental delay Ataxia Hearing impairment Abnormality of the cardiovascular system Seizures Atransferrinemia Hypochromic anemia Abnormality of the pancreas Microcytic anemia Non-Hodgkin lymphoma Hypochromic microcytic anemia Poikilocytosis Abnormality of skin pigmentation Cleft palate Elevated serum creatinine Preaxial polydactyly Bifid uvula Neutropenia Postnatal growth retardation Abnormality of the kidney Proteinuria Polydactyly Dilatation Intrauterine growth retardation Hypertension Cognitive impairment Short stature Optic disc pallor Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Lymphocytosis Juvenile rheumatoid arthritis Macular edema Anisocytosis Retinal atrophy Lung adenocarcinoma Thrombocytopenia Cellular immunodeficiency Melanoma Spasticity Erythroid dysplasia Chronic myelomonocytic leukemia Monocytosis Refractory anemia Acute monocytic leukemia Immune dysregulation Acute myeloid leukemia Myeloid leukemia Myelodysplasia Leukopenia Intellectual disability, mild Bone marrow hypocellularity Eczema Asthma Increased serum zinc Pyoderma Abnormality of metabolism/homeostasis Hyperechogenic kidneys Tubulointerstitial fibrosis Tubular atrophy Renal hypoplasia Stage 5 chronic kidney disease Behavioral abnormality Intellectual disability, moderate Chronic lymphatic leukemia Increased red cell osmotic fragility Lymphoproliferative disorder B-cell lymphoma Acute leukemia Hodgkin lymphoma Hyperthyroidism Neurodegeneration Lymphadenopathy Autoimmunity Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased hemoglobin Abnormality of movement Increased total bilirubin Congenital hypoplastic anemia Chronic myelogenous leukemia Anemia of inadequate production Reticulocytosis Prolonged neonatal jaundice Cholelithiasis Hyperbilirubinemia Jaundice Arrhythmia Hemiplegia/hemiparesis Velopharyngeal insufficiency



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