Phenotype: Microcytic anemia (HP:0001935)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:232
disease_name: Sickle cell anemia
gene_symbol: HBB
disease_id: OMIM:603902
disease_name: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
gene_symbol: HBB
disease_id: ORPHA:231237
disease_name: Delta-beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231242
disease_name: Hemoglobin C-beta-thalassemia syndrome
C-beta-thalassemia
HbC-beta-thalassemia syndrome
gene_symbol: PSTPIP1
disease_id: OMIM:604416
disease_name: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
gene_symbol: LPIN2
disease_id: OMIM:609628
disease_name: MAJEED SYNDROME
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBD
disease_id: ORPHA:231237
disease_name: Delta-beta-thalassemia
gene_symbol: HBG1
disease_id: ORPHA:231237
disease_name: Delta-beta-thalassemia
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: FARSA
disease_id: OMIM:619013
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: CAT
disease_id: ORPHA:926
disease_name: Acatalasemia
Catalase deficiency
gene_symbol: AGGF1
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: SRD5A3
disease_id: OMIM:612379
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: SLC25A10
disease_id: OMIM:618972
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 19
gene_symbol: RIPK1
disease_id: OMIM:618852
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
gene_symbol: ATRX
disease_id: ORPHA:231401
disease_name: Alpha-thalassemia-myelodysplastic syndrome
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: IREB2
disease_id: OMIM:618451
disease_name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
gene_symbol: TEK
disease_id: ORPHA:1059
disease_name: Blue rubber bleb nevus
BRBN
Bean syndrome
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: FECH
disease_id: ORPHA:79278
disease_name: Autosomal erythropoietic protoporphyria
EPP
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: ALAS2
disease_id: OMIM:300751
disease_name: ANEMIA, SIDEROBLASTIC, 1
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: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
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: 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