Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated genes and diseases:
gene_symbol: ALAS2
disease_id: OMIM:300751
disease_name: ANEMIA, SIDEROBLASTIC, 1
gene_symbol: LPIN2
disease_id: ORPHA:77297
disease_name: Majeed syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
gene_symbol: KARS1
disease_id: ORPHA:3240
disease_name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
gene_symbol: KARS1
disease_id: OMIM:619147
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: TMPRSS6
disease_id: OMIM:206200
disease_name: IRON-REFRACTORY IRON DEFICIENCY ANEMIA
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
gene_symbol: HBB
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: HBB
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: OMIM:613985
disease_name: BETA-THALASSEMIA
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: HBA2
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: HBA1
disease_id: OMIM:604131
disease_name: ALPHA-THALASSEMIA
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ATRX
disease_id: OMIM:300448
disease_name: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME
gene_symbol: BCL11A
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: KLF1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG2
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: C2orf69
disease_id: OMIM:619423
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53
gene_symbol: HSCB
disease_id: OMIM:619523
disease_name: ANEMIA, SIDEROBLASTIC, 5
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: LAMA3
disease_id: ORPHA:2407
disease_name: Laryngo-onycho-cutaneous syndrome
LOC syndrome
LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Shabbir syndrome