Anemia, and Tachycardia

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 ).

• Anemia
• Hypoglycemia
• Vertigo
• Tachycardia
• Hypotension

SOURCES: OMIM MENDELIAN

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

• Neoplasm
• Anemia

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

• Anemia
• Fever
• Weight loss
• Dyspnea
• Hepatosplenomegaly

SOURCES: ORPHANET MESH OMIM MENDELIAN

Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

• Anemia
• Hypertension
• Fatigue
• Diarrhea
• Headache

SOURCES: ORPHANET OMIM MESH MENDELIAN

Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).

TRIMETHYLAMINURIA; TMAU Is also known as fish-odor syndrome

• Anemia
• Hypertension
• Splenomegaly
• Depressivity
• Hyperhidrosis

SOURCES: OMIM ORPHANET MENDELIAN

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 (OMIM ) and CD59 (OMIM )) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by Brodsky, 2008). Genetic Heterogeneity of Paroxysmal Nocturnal HemoglobinuriaSee also PNH2 (OMIM ), which may be caused by germline and somatic mutation in the PIGT gene (OMIM ) on chromosome 20q13.

• Pain
• Anemia
• Fatigue
• Respiratory distress
• Thrombocytopenia

SOURCES: OMIM MENDELIAN

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

• Seizures
• Generalized hypotonia
• Failure to thrive
• Muscular hypotonia
• Pain

SOURCES: OMIM ORPHANET MESH MENDELIAN