Growth delay, and Hemolytic anemia

Diseases related with Growth delay and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Growth delay and Hemolytic anemia that can help you solving undiagnosed cases.

Top matches:

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

SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria


SOURCES: OMIM MESH MENDELIAN

More info about HEME OXYGENASE 1 DEFICIENCY; HMOX1D

Other less relevant matches:

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY Is also known as pyruvate kinase deficiency of erythrocytes|pk deficiency|pyruvate kinase deficiency of erythrocyte

Related symptoms:

  • Anemia
  • Intrauterine growth retardation
  • Fatigue
  • Edema
  • Splenomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

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

Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III Is also known as anemia with multinucleated erythroblasts|erythroreticulosis, hereditary benign|congenital dyserythropoietic anemia type 3|cda type 3|dyserythropoietic anemia, congenital, type iii|cda iii|cda type iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Fatigue
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Top 5 symptoms//phenotypes associated to Growth delay and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Jaundice Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperbilirubinemia Delayed puberty Short stature Cholelithiasis Reticulocytosis Pallor

Rare Symptoms - Less than 30% cases

Anisocytosis Poikilocytosis Cholecystitis Neoplasm Abnormal erythrocyte morphology Nonspherocytic hemolytic anemia Chronic hemolytic anemia Increased serum iron Abnormality of the liver Hypercholesterolemia Headache Prolonged neonatal jaundice Spherocytosis Pain Oral cavity bleeding Xanthomatosis Premature coronary artery atherosclerosis Giant platelets Xanthelasma Macrothrombocytopenia Increased mean platelet volume Low posterior hairline Rhabdomyolysis Hypersplenism Stomatocytosis Impaired platelet aggregation Normocytic anemia Abnormality of the integument Spinal cord compression Coronary artery atherosclerosis Atherosclerosis Increased muscle fatiguability Abnormality of the cardiovascular system Abnormal bleeding Paraplegia Arthritis Arthralgia Abdominal pain Accelerated atherosclerosis Episodic hemolytic anemia Post-partum hemorrhage Melena Increased total iron binding capacity Abnormal proerythroblast morphology Abnormal erythroid lineage cell morphology Abnormal cellular phenotype Erythroid hyperplasia Congenital hypoplastic anemia Hemosiderinuria Intellectual disability Muscle weakness Ptosis Epicanthus Erythroid hypoplasia Respiratory tract infection Multiple myeloma Short neck Myopathy Increased mean corpuscular volume Gingival bleeding Macrocytic anemia Heterotopia Elevated hepatic transaminase Proptosis Hyperapobetalipoproteinemia Tuberous xanthoma Anemia of inadequate production Hypergalactosemia Elliptocytosis Reduced alpha/beta synthesis ratio Abnormality of the amniotic fluid Congenital hemolytic anemia Unconjugated hyperbilirubinemia Nonimmune hydrops fetalis Increased serum ferritin Thrombocytosis Hydrops fetalis Lethargy Edema Intrauterine growth retardation Dark urine Compensated hemolytic anemia Hypochromic microcytic anemia Poor appetite Asplenia Hematuria Skin rash Proteinuria Fever Heart murmur Stroke Pneumonia Hypertension Increased red cell osmotic fragility Elevated transferrin saturation Autoimmune hemolytic anemia Abnormality of lipid metabolism Palpitations Erythema Hypertrophic cardiomyopathy Cardiomyopathy Abnormality of the skeletal system Elevated plasma citrulline Hypermethioninemia Giant cell hepatitis Decreased HDL cholesterol concentration Hypoproteinemia Intrahepatic cholestasis Hepatic fibrosis Reduced red cell pyruvate kinase activity Decreased liver function Cholestasis Hypertriglyceridemia Hepatitis Hepatic steatosis Cirrhosis Small for gestational age Abnormality of the nervous system Hypoglycemia Failure to thrive Global developmental delay Normochromic anemia


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