Phenotype: Poikilocytosis (HP:0004447)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
gene_symbol: XK
disease_id: OMIM:300842
disease_name: MCLEOD SYNDROME
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: KCNN4
disease_id: OMIM:616689
disease_name: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: SAR1B
disease_id: ORPHA:71
disease_name: Chylomicron retention disease
Anderson disease
CMRD
CRD
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
gene_symbol: ADAMTS13
disease_id: OMIM:274150
disease_name: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: CFHR3
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFHR1
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
gene_symbol: ANK1
disease_id: OMIM:182900
disease_name: SPHEROCYTOSIS, TYPE 1
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: EPB42
disease_id: OMIM:612690
disease_name: SPHEROCYTOSIS, TYPE 5
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: RHAG
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHCE
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHD
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: AMMECR1
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: KCNE5
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: ACSL4
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: GP1BA
disease_id: OMIM:153670
disease_name: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: ABCG5
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: ABCB6
disease_id: ORPHA:90044
disease_name: Familial pseudohyperkalemia
gene_symbol: EPB41
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: GYPC
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTB
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTA1
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
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: KIF23
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RACGAP1
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: NHLRC2
disease_id: OMIM:618278
disease_name: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
gene_symbol: GATA1
disease_id: ORPHA:67044
disease_name: Thrombocytopenia with congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia with thombocytopenia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
XDAT
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: GATA1
disease_id: OMIM:300835
disease_name: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: CDAN1
disease_id: OMIM:224120
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia
gene_symbol: TMPRSS6
disease_id: OMIM:206200
disease_name: IRON-REFRACTORY IRON DEFICIENCY ANEMIA
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: UMPS
disease_id: OMIM:258900
disease_name: OROTIC ACIDURIA
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: CDIN1
disease_id: OMIM:615631
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
gene_symbol: CALR
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: MPL
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: JAK2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: TET2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GPI
disease_id: ORPHA:712
disease_name: Hemolytic anemia due to glucophosphate isomerase deficiency
gene_symbol: PKLR
disease_id: ORPHA:766
disease_name: Hemolytic anemia due to red cell pyruvate kinase deficiency
Pyruvate kinase deficiency of erythrocytes
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: CLPB
disease_id: OMIM:619835
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: MPIG6B
disease_id: OMIM:617441
disease_name: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS