Anemia, and Myalgia

Diseases related with Anemia and Myalgia

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


Top matches:

Low match MALARIA


Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Fever
  • Respiratory distress
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALARIA

Low match ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY


G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

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

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Other less relevant matches:

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 STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match MAJEED SYNDROME


Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Top 5 symptoms//phenotypes associated to Anemia and Myalgia

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Failure to thrive Vomiting Reticulocytosis Arthritis Skin rash Weight loss Hemolytic anemia Jaundice Splenomegaly Short stature Intellectual disability Migraine Headache Myopathy Nausea and vomiting Hyperbilirubinemia

Rare Symptoms - Less than 30% cases


Elevated serum creatine phosphokinase Diarrhea Dilatation Tachycardia Hepatosplenomegaly Neurological speech impairment Lymphopenia Flexion contracture Increased muscle fatiguability Hyperhidrosis Hypertensive crisis Purpura Hypertension Pustule Limb muscle weakness Nausea Muscle cramps Exercise-induced muscle cramps Renal insufficiency Thrombocytopenia Retinopathy Paralysis Acute kidney injury Reduced consciousness/confusion Global developmental delay Exercise-induced myoglobinuria Anorexia Leukocytosis Exercise intolerance Nonspherocytic hemolytic anemia Myoglobinuria Retinal dystrophy Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Tetraparesis Decreased mean corpuscular volume Muscular dystrophy Synovitis Hypertrophic cardiomyopathy Myocardial infarction Recurrent myoglobinuria Chest pain Pulmonary arterial hypertension Hepatomegaly Spastic tetraparesis Hypochromic microcytic anemia Aphasia Bone pain Emotional lability Proteinuria Cough Papule Rhabdomyolysis Malabsorption Inflammatory abnormality of the skin Increased bone mineral density Microscopic hematuria Progressive encephalopathy Cachexia Increased susceptibility to fractures Metaphyseal irregularity Edema Glomerulopathy Pulmonary infiltrates Hemiplegia Acne Ascending tubular aorta aneurysm Subcutaneous nodule Insomnia Abdominal distention Urinary incontinence Psychosis Cutaneous photosensitivity Hallucinations Paraparesis Hyperlipidemia Cranial nerve paralysis Hyponatremia Apathy Agitation Hepatocellular carcinoma Nephropathy Dysuria Ileus Urinary retention Diaphragmatic paralysis Abnormal urinary color Delirium Psychotic episodes Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Coma Stage 5 chronic kidney disease Skin ulcer Abnormal endocardium morphology Vasculitis Aortic regurgitation Psoriasiform dermatitis Abnormal heart valve morphology Hemoptysis Gangrene Cerebral ischemia Abnormal aortic valve morphology Inflammatory abnormality of the eye Abnormal pattern of respiration Arterial stenosis Amaurosis fugax Paresthesia Gastrointestinal infarctions Arteritis Increased inflammatory response Behavioral abnormality Intellectual disability, mild Depressivity Arrhythmia Constipation Abdominal pain Carcinoma Anxiety Lethargy Mental deterioration Cognitive impairment Rod-cone dystrophy Autoimmunity Increased serum ferritin Enterocolitis Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Growth delay Recurrent respiratory infections Erythema Joint stiffness Scarring Nail dystrophy Loss of consciousness Abnormal lung morphology Decreased body weight Telangiectasia Leukopenia Tachypnea Cutis marmorata Pulmonary fibrosis Increased antibody level in blood Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Colitis Abnormality of the coagulation cascade Raynaud phenomenon Meningitis Respiratory distress Abnormality of blood and blood-forming tissues Gait imbalance Elevated C-reactive protein level Morphological abnormality of the central nervous system Neoplasm Pallor Cirrhosis Lymphoma Abnormality of the cardiovascular system Back pain Decreased liver function Osteomyelitis Prolonged neonatal jaundice Hodgkin lymphoma Anisocytosis Poikilocytosis Hemoglobinuria Unconjugated hyperbilirubinemia Kernicterus Fava bean-induced hemolytic anemia Pancytopenia Thrombocytosis Myositis Visual loss Polycythemia Abnormal platelet morphology Upgaze palsy Congenital miosis Cardiomyopathy Blindness Respiratory failure Corneal opacity Cerebral visual impairment Easy fatigability Cholelithiasis Gout Miosis Dark urine Increased total bilirubin Gastric ulcer Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Ataxia High palate Delayed speech and language development Brachydactyly Encephalopathy Increased mean platelet volume Abnormal thrombocyte morphology Antinuclear antibody positivity Bruising susceptibility Low-grade fever Follicular hyperplasia Malar rash Fasciitis Severe short stature High forehead Deeply set eye Proximal muscle weakness Stroke Ichthyosis Abnormal bleeding Stroke-like episode Prominent nose Hypotelorism Epistaxis Hypocalcemia Abnormality of coagulation Abnormality of the musculature Subarachnoid hemorrhage Mitochondrial myopathy Asplenia Dyslexia Acute episodes of neuropathic symptoms



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