Mitochondria Phenome Knowledgebase

Gene Symbol ALAS2
Ensembl ID ENSG00000158578 Entrez 212
Gene Alias ANH1; ASB; XLSA Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position Xp11.21 Subcell PMIDs 10727444
OMIM Gene 301300 Protein Complex
Swissprot ID P22557 Swissprot Description 5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor
OMIM Disease X linked sideroblastic anemia (XLSA) [301300]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALAS2 301300 Neoplasms oncologic #16540354
ALAS2 301300 Digestive-system-neoplasms oncologic #16540354
ALAS2 301300 Hepatocellular-carcinoma oncologic 16540354
ALAS2 301300 Digestive-system-diseases gastrointestinal #1570328 #7949148 #8107717 #10029606 #15477213 #16540354
ALAS2 301300 Gastrointestinal-diseases gastrointestinal #16540354
ALAS2 301300 Esophageal-varices episodes; variceal bleeding gastrointestinal 16540354
ALAS2 301300 Liver-diseases gastrointestinal #7949148 #8107717 #10029606 #15477213 #16540354
ALAS2 301300 Fatty-liver liver fatty changes gastrointestinal 10029606
ALAS2 301300 Liver-cirrhosis Biopsy findings; precirrhotic changes; liver hemosiderin; micronodular cirrhosis gastrointestinal 10029606 16540354
ALAS2 301300 Liver-enzymes-abnormal AST elevated; GGT elevated gastrointestinal 8107717 10029606 15477213
ALAS2 301300 Hepatomegaly hepatosplenomegaly gastrointestinal 7949148 10029606
ALAS2 301300 Vomiting nausea gastrointestinal 1570328
ALAS2 301300 Respiratory-tract-diseases respiratory #7560104 #7949148 #8107717 #12663458 #15477213
ALAS2 301300 Respiration-disorders dyspnea; breathlessness; chronic obstructive lung disease; airways disease respiratory 7560104 7949148 8107717 12663458 15477213
ALAS2 301300 Nervous-system-diseases neurologic #12663458
ALAS2 301300 Neurologic-manifestations neurologic #12663458
ALAS2 301300 Neurobehavioral-manifestations neurologic #12663458
ALAS2 301300 Lethargy tiredness neurologic 12663458
ALAS2 301300 Genitourinary-diseases genitourinary #15477213 #16540354
ALAS2 301300 Male-genital-diseases genitourinary #16540354
ALAS2 301300 Infertility-male erectile dysfunction; impotence genitourinary 16540354
ALAS2 301300 Female-genital-diseases genitourinary #15477213
ALAS2 301300 Menstruation-disturbances amenorrhea genitourinary 15477213
ALAS2 301300 Cardiovascular-diseases cardiovascular #1570328 #7949148 #10029606
ALAS2 301300 Congenital-heart-defects interatrial septal defect cardiovascular 7949148
ALAS2 301300 Heart-diseases cardiovascular #1570328 #10029606
ALAS2 301300 Arrhythmia tachycardia cardiovascular 1570328
ALAS2 301300 Cardiomyopathy cardiomegaly; cardiac enlargement cardiovascular 10029606
ALAS2 301300 Cardiorespiratory-arrest died within first year cardiovascular 7949148
ALAS2 301300 Vascular-diseases cardiovascular #7949148
ALAS2 301300 Embolism-and-thrombosis thrombosis; deep venous thrombosis; repeated episodes; pulmonary emboli cardiovascular 7949148
ALAS2 301300 Hematologic-diseases hematologic #1570328 #7560104 #7949148 #8107717 #10029606 #10577279 #11110715 #12031592 #12393718 #12531813 #12663458 #15477213 #16446107 #16540354
ALAS2 301300 Anemia hypochromic; sideroblastic; microcytic; anisocytosis; poikilocytosis; bizarre echinocytes; tear drop poikilocytes hematologic 1570328 7560104 7949148 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
ALAS2 301300 Blood-platelet-disorders hematologic #8107717 #12663458
ALAS2 301300 Thrombocytopenia low platelet count hematologic 12663458
ALAS2 301300 Thrombocytosis high platelet count hematologic 8107717
ALAS2 301300 Bone-marrow-diseases myelodysplasia; myelofibrosis; hypercellular; hypererythroid; dyserythropoiesis; ringed sideroblasts; erythroid hyperplasia; ring sideroblasts hematologic 1570328 7560104 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
ALAS2 301300 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 7560104 7949148 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
ALAS2 301300 Skin-diseases dermatologic #1570328 #7560104 #10577279 #15477213
ALAS2 301300 Pigmentation-disorders dermatologic #15477213
ALAS2 301300 Hyperpigmentation skin hyperpigmentation dermatologic 15477213
ALAS2 301300 Paleness pallor; pale dermatologic 1570328 7560104 10577279
ALAS2 301300 Metabolic-diseases metabolic #1570328 #7560104 #7949148 #8107717 #10029606 #10577279 #11110715 #12031592 #12393718 #12531813 #12663458 #15477213 #16446107 #16540354
ALAS2 301300 Hemochromatosis hemosiderosis; iron deposition; liver stainable iron metabolic 7560104 7949148 10029606 11110715 15477213 16540354
ALAS2 301300 Hyperferricemia iron stores increased; serum ferritin elevated; iron overload; serum iron increased metabolic 1570328 7560104 7949148 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
ALAS2 301300 Exercise-intolerance fatigue; shortness of breath; weakness; asthenia miscellaneous 1570328 7560104 7949148 8107717 10577279 11110715 15477213 16446107
ALAS2 301300 Splenomegaly hepatosplenomegaly; hypersplenism miscellaneous 1570328 7949148 8107717 10029606
ALAS2 301300 Alpha-fetoprotein-abnormal alpha fetoprotein elevated miscellaneous 16540354
ALAS2 301300 Vitamin-responsive pyridoxine; vitamin B6 miscellaneous 7560104 7949148 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458

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