Anemia, Sideroblastic, 1 (SIDBA1)

Alias:

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anemia, Hereditary Sideroblastic

Anemia, Sideroblastic, X-Linked

Hereditary Sideroblastic Anemia

Hereditary Iron-Loading Anemia

Anh1

Sideroblastic Anemia 1

Anemia, Hypochromic

Anemia Hypochromic

Sidba1

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Erythroid 5-Aminolevulinate Synthase Deficiency

Anemia, Sex-Linked Hypochromic Sideroblastic

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

X Chromosome-Linked Sideroblastic Anemia

Familial Sex Linked Hypochromic Anaemia

Congenital Sideroblastic Anaemia

Anemia Congenital Sideroblastic

X-Linked Sideroblastic Anemia 1

X-Linked Sideroblastic Anaemia

Anemia, Sideroblastic, Type 1

Sideroblastic Anaemia 1

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

贫血，铁粒幼细胞性，1型，也称为xlsa，与低色素性小细胞性贫血和转铁蛋白缺乏症有关。与贫血，铁粒幼细胞性，1型相关的基因是ALAS2（5'-氨基乙酰辅酶A合成酶2），其相关通路/超通路包括无机离子/阴离子和氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了氟达拉滨和他克莫司。附属组织包括骨髓和肝脏，相关表型为肌肉无力和疲劳。

Related ID：

MALACARDS：ANM036

OMIM：300751

MESH：D000747

ICD11：1090108163