Anemia, and Osteoarthritis

Diseases related with Anemia and Osteoarthritis

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


Top matches:

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

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

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Other less relevant matches:

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

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

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 ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

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

Top 5 symptoms//phenotypes associated to Anemia and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Uncommon - Between 30% and 50% cases
Gout Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Renal insufficiency

Rare Symptoms - Less than 30% cases


Stage 5 chronic kidney disease Neoplasm Seizures Hepatomegaly Splenomegaly Bone marrow hypocellularity Chronic kidney disease Nephropathy Asthma Systemic lupus erythematosus Anemia of inadequate production Congenital hypoplastic anemia Hyperuricemia Growth delay Recurrent infections Hematuria Leukemia Blindness Abdominal pain Cirrhosis Joint dislocation Abnormality of the liver Joint swelling Increased serum ferritin Myeloid leukemia Macrocephaly Nystagmus Micrognathia Strabismus Increased total bilirubin Muscle weakness Visual impairment Optic atrophy Frontal bossing Myelodysplasia Abnormality of the skeletal system Melanoma Hydrocephalus Edema Abnormality of the dentition Leukopenia Chronic myelogenous leukemia Immunodeficiency Hypertelorism Scoliosis Acute myeloid leukemia Behavioral abnormality Immune dysregulation Increased hemoglobin Acute monocytic leukemia Refractory anemia Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia Spasticity Intellectual disability, mild Endopolyploidy on chromosome studies of bone marrow Intellectual disability, moderate Abnormality of movement Increased red cell osmotic fragility Hemiplegia/hemiparesis Global developmental delay Thrombocytopenia Short stature Hearing impairment Dilatation Proptosis Visual loss Abnormal cranial nerve morphology Cranial nerve paralysis Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Hyperostosis Osteomyelitis Rhinitis Aseptic necrosis Osteopetrosis Facial paralysis Congestive heart failure Generalized osteosclerosis Extramedullary hematopoiesis Fractures of the long bones Hip osteoarthritis Cranial hyperostosis Lumbar scoliosis Mandibular osteomyelitis Abnormal leukocyte morphology Elevated serum acid phosphatase Abnormality of the vertebral endplates Hypocalcemia Pneumonia Neurodegeneration Tooth abscess Mandibular prognathia Reticulocytosis Facial palsy Paralysis Prolonged neonatal jaundice Carious teeth Genu valgum Short distal phalanx of finger Recurrent fractures Increased bone mineral density Ectodermal dysplasia Cholelithiasis Abnormality of the metaphysis Recurrent urinary tract infections Hyperbilirubinemia Abnormality of epiphysis morphology Lymphedema Bone pain Jaundice Pancytopenia Recurrent meningitis Eczema Splenic rupture Joint hemorrhage Spontaneous hematomas Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Fever Prolonged partial thromboplastin time Diarrhea Headache Constipation Acidosis Myalgia Proteinuria Abnormality of the kidney Erythema Skin rash Stomatitis Dyschromatopsia Nausea and vomiting Generalized hyperpigmentation Fatigue Respiratory distress Cardiomyopathy Scarring Hepatic steatosis Limitation of joint mobility Hepatic fibrosis Glucose intolerance Impotence Congenital hepatic fibrosis Abnormality of the elbow Flexion contracture Peripheral neuropathy Stroke Muscular dystrophy Bruising susceptibility Gastrointestinal hemorrhage Intracranial hemorrhage Arthropathy Thromboembolism Malabsorption Lymphadenopathy Lymphoma Cataract Synovitis Stiff neck Pleuritis Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Orchitis Peritonitis Renal cyst Renal hypoplasia Focal segmental glomerulosclerosis Tubular atrophy Tubulointerstitial fibrosis Hyperechogenic kidneys Abnormality of metabolism/homeostasis Pyoderma Increased serum zinc Decreased circulating aldosterone level Oral leukoplakia Nausea Rheumatoid arthritis Ascites Chest pain Nephrotic syndrome Myocardial infarction Meningitis Vasculitis Nephrocalcinosis Purpura Pancreatitis Intestinal obstruction Acute hepatic failure Inflammation of the large intestine Leukocytosis Hyperkalemia Elevated erythrocyte sedimentation rate Amyloidosis Pericarditis Episodic fever Antinuclear antibody positivity Edema of the lower limbs Reduced activity of N-acetylglucosaminyltransferase II



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