Anemia, and Arthralgia

Diseases related with Anemia and Arthralgia

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


Top matches:

Low match MAJEED SYNDROME; MJDS


MAJEED SYNDROME; MJDS Is also known as chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis

Related symptoms:

  • Growth delay
  • Anemia
  • Flexion contracture
  • Fever
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about MAJEED SYNDROME; MJDS

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

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Other less relevant matches:

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis 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 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

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 STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

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 STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Top 5 symptoms//phenotypes associated to Anemia and Arthralgia

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Skin rash Hepatosplenomegaly Abnormality of the liver Splenomegaly Short stature Increased serum ferritin Autoimmunity Fever

Rare Symptoms - Less than 30% cases


Increased antibody level in blood Neutropenia Autoimmune thrombocytopenia Purpura Impotence Lymphadenopathy Thrombocytopenia Recurrent infections Immunodeficiency Elevated erythrocyte sedimentation rate Failure to thrive Myalgia Colitis Scarring Interstitial pulmonary abnormality Joint swelling Recurrent respiratory infections Erythema Cardiomyopathy Abnormal lung morphology Cirrhosis Osteoarthritis Flexion contracture Inflammatory abnormality of the skin Low-grade fever Diarrhea Growth delay Thromboembolism Bleeding with minor or no trauma Oral cavity bleeding Intramuscular hematoma Thrombocytosis Persistent bleeding after trauma Intraventricular hemorrhage Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Stomatitis Prolonged partial thromboplastin time Dyschromatopsia Abnormality of the elbow Raynaud phenomenon Myositis Intracranial hemorrhage Splenic rupture Gastrointestinal hemorrhage Hematuria Bruising susceptibility Muscular dystrophy Stroke Blindness Peripheral neuropathy Fasciitis Pustule Malar rash Follicular hyperplasia Antinuclear antibody positivity Arthropathy Coronary artery atherosclerosis Abnormality of the dentition Recurrent ear infections Generalized lymphadenopathy Lymphocytosis Immune dysregulation Lymphoproliferative disorder Thyroiditis Recurrent sinusitis Glomerulonephritis Systemic lupus erythematosus Shock Sinusitis Nephrotic syndrome Hepatomegaly Interstitial pneumonitis Primary hypothyroidism Atopic dermatitis Paroxysmal nocturnal hemoglobinuria Delayed puberty Dyspnea Pneumonia Diabetes mellitus Hypothyroidism Respiratory tract infection Leukemia Headache Autoimmune hemolytic anemia Decreased antibody level in blood Eczema Type I diabetes mellitus Abnormal intestine morphology Celiac disease Scleroderma Urticaria Delayed skeletal maturation Reticulocytosis Hyperapobetalipoproteinemia Vomiting Seizures Increased serum iron Chronic recurrent multifocal osteomyelitis Paraplegia Abnormal bleeding Hypogonadotrophic hypogonadism Abnormality of the cardiovascular system Hyperpigmentation of the skin Amenorrhea Hyperbilirubinemia Atherosclerosis Elevated hepatic transaminase Hypercholesterolemia Tuberous xanthoma Tachycardia Episodic hemolytic anemia Abnormality of the integument Accelerated atherosclerosis Chronic hemolytic anemia Premature coronary artery atherosclerosis Giant platelets Xanthelasma Macrothrombocytopenia Increased mean platelet volume Hypersplenism Stomatocytosis Impaired platelet aggregation Xanthomatosis Spinal cord compression Congenital hypoplastic anemia Pancytopenia Pulmonary fibrosis Joint dislocation Cutis marmorata Tachypnea Leukopenia Telangiectasia Decreased body weight Nail dystrophy Bone pain Joint stiffness Psoriasiform dermatitis Osteomyelitis Congenital hepatic fibrosis Microcytic anemia Generalized hyperpigmentation Glucose intolerance Hepatic fibrosis Decreased liver function Episodic fever Limitation of joint mobility Hepatic steatosis Anemia of inadequate production Arrhythmia Respiratory distress Cataract Diffuse alveolar hemorrhage Secretory diarrhea Disseminated intravascular coagulation Enterocolitis Decreased mean corpuscular volume Loss of consciousness Abnormality of the coagulation cascade Membranous nephropathy



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