Anemia, and Arrhythmia

Diseases related with Anemia and Arrhythmia

In the following list you will find some of the most common rare diseases related to Anemia and Arrhythmia 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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match ORTHOSTATIC HYPOTENSION 2; ORTHYP2


Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hypoglycemia
  • Vertigo
  • Tachycardia
  • Hypotension


SOURCES: OMIM MENDELIAN

More info about ORTHOSTATIC HYPOTENSION 2; ORTHYP2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low match JERVELL AND LANGE-NIELSEN SYNDROME


Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

Low match JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1


The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 Is also known as prolonged qt interval in ekg and sudden death|deafness, congenital, and functional heart disease|surdo-cardiac syndrome|cardioauditory syndrome of jervell and lange-nielsen

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

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 ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA


Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.

ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA Is also known as rars|primary acquired sideroblastic anemia|refractory anemia with ringed sideroblasts|aisa

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Respiratory distress
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA

Low match HEREDITARY SPHEROCYTOSIS


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 HEREDITARY NEUTROPHILIA


Related symptoms:

  • Anemia
  • Fever
  • Weight loss
  • Dyspnea
  • Hepatosplenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY NEUTROPHILIA

Top 5 symptoms//phenotypes associated to Anemia and Arrhythmia

Symptoms // Phenotype % cases
Tachycardia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Neoplasm Rare - less than 30% cases
Chest pain Rare - less than 30% cases
Prolonged QT interval Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Torsade de pointes Headache Pain Jaundice Congestive heart failure Splenomegaly Congenital sensorineural hearing impairment Hyperbilirubinemia Cholelithiasis Reticulocytosis Palpitations Ventricular fibrillation Fatigue Ventricular arrhythmia Cardiac arrest Leukemia Seizures Sudden cardiac death Syncope Hearing impairment Ventricular tachycardia Autoimmune hemolytic anemia Crackles Irritability Pallor Megakaryocyte dysplasia Microcytic anemia Increased serum ferritin Decreased mean corpuscular volume Sideroblastic anemia Abnormal glucose tolerance Hypochromic anemia Refractory anemia Neutrophilia Thickened calvaria Pericardial effusion Refractory sideroblastic anemia Spherocytosis Myelodysplasia Weight loss Erythroid hypoplasia Fever Short stature Abnormality of the skeletal system Cardiomyopathy Eosinophilia Hypertrophic cardiomyopathy Erythema Elliptocytosis Delayed puberty Dyspnea Hemolytic anemia Prolonged neonatal jaundice Respiratory distress T-wave alternans Hyperpigmentation of the skin Hypoglycemia Vertigo Hypotension Orthostatic hypotension Recurrent hypoglycemia Diarrhea Bilateral sensorineural hearing impairment Abnormal intestine morphology Delayed gross motor development Vestibular dysfunction Iron deficiency anemia Epileptic spasms T-wave inversion Sensorineural hearing impairment Reduced activity of N-acetylglucosaminyltransferase II Anemia of inadequate production Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Congenital hypoplastic anemia Chronic myelogenous leukemia Gout Generalized tonic-clonic seizures Cirrhosis Abnormality of the liver Hepatomegaly Subarachnoid hemorrhage Loss of consciousness Confusion Elevated leukocyte alkaline phosphatase



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Hypermetropia, related diseases and genetic alterations Hydrocephalus and Sepsis, related diseases and genetic alterations Visual impairment and Lactic acidosis, related diseases and genetic alterations Ptosis and Dementia, related diseases and genetic alterations Cardiomyopathy and Neurodegeneration, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more