Gene Summary

Name:
transferrin
Synonyms:
Tfn,  HP

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Trfem1(IMPC)J HET Late adult 1.78×10-07
abnormal circulating phosphate level Trfem1(IMPC)Rbrc HET   Late adult 1.17×10-05
pallor Trfem1(IMPC)J HOM E18.5 0.00
abnormal retinal vasculature morphology Trfem1(IMPC)J HET Late adult 1.78×10-07
increased total body fat amount Trfem1(IMPC)J HET Early adult 2.71×10-05
preweaning lethality, complete penetrance Trfem1(IMPC)Rbrc HOM   Early adult 0.00
preweaning lethality, complete penetrance Trfem1(IMPC)J HOM   Early adult 0.00
abnormal retinal blood vessel morphology Trfem1(IMPC)J HET Late adult 1.78×10-07
abnormal embryo size Trfem1(IMPC)J HOM E18.5 0.00
abnormal optic disk morphology Trfem1(IMPC)J HET Late adult 2.44×10-07
abnormal locomotor behavior Trfem1(IMPC)J HET Late adult 8.26×10-05
decreased circulating iron level Trfem1(IMPC)Rbrc HET Early adult 1.83×10-05
abnormal mean corpuscular hemoglobin Trfem1(IMPC)Rbrc HET   Late adult 4.92×10-05
persistence of hyaloid vascular system Trfem1(IMPC)J HET Late adult 1.31×10-06
cataract Trfem1(IMPC)J HET Late adult 3.49×10-06
abnormal coat/hair pigmentation Trfem1(IMPC)J HET Late adult 8.74×10-05
fused cornea and lens Trfem1(IMPC)J HET Late adult 1.78×10-07
limb grasping Trfem1(IMPC)J HET Late adult 4.54×10-06
impaired righting response Trfem1(IMPC)J HET Late adult 1.92×10-05
iris synechia Trfem1(IMPC)J HET Late adult 9.43×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Trf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Trf by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atransferrinemia
Hypochromic anemia, Atransferrinemia OMIM:209300
Congenital Atransferrinemia
Anemia ORPHA:1195

The table below shows human diseases predicted to be associated to Trf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Retinitis Pigmentosa 81
Pallor OMIM:617871
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Mild postnatal growt... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia ... OMIM:615631
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Retinitis Pigmentosa 42
Pallor OMIM:612943
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Growth delay, Anemia, Splenomegaly, De... OMIM:615234
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Atransferrinemia
Hypochromic anemia, Atransferrinemia OMIM:209300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Anemia, Splenomega... OMIM:613313
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy OMIM:311050
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short stature, Splenomegaly ORPHA:66518
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:300752
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Anem... OMIM:613673
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... OMIM:600462
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Growth delay OMIM:257790
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Increased serum i... ORPHA:300298
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Spastic ataxia, Gait disturbance, Ataxia, Optic atrophy, Corneal dystrophy ORPHA:2572
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Grow... OMIM:229100
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:615558
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Somatic sensory dysfunction, Optic atrophy OMIM:615658
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Impaired vibration sensation in the lower limbs OMIM:165199
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Retinitis Pigmentosa 60
Pallor OMIM:613983
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Optic... OMIM:617087
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy, Ataxia ORPHA:2732
Ceroid Lipofuscinosis, Neuronal, 9
Progressive inability to walk, Optic atrophy, Rod-cone dystrophy, Ataxia OMIM:609055
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Cataract, Sparse latera... ORPHA:170
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration, Anemia OMIM:121270
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Growth delay, Neutropenia, Reticulocytopenia, Short stature, Macrocytic anemia OMIM:612527
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Anemia OMIM:604290
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Short stature, Anemia ORPHA:1551
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Diamond-Blackfan Anemia 8
Growth delay, Neutropenia, Short stature, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Growth delay, Hypophosphatemia ORPHA:89937
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Normochromic anemia, Hemolytic anemia, Decreased HDL cholesterol concentration OMIM:245900
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Abetalipoproteinemia
Abetalipoproteinemia, Acanthocytosis OMIM:200100
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Majeed Syndrome
Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate pro... OMIM:609628
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Anemia, Splenomegaly ORPHA:425
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Ataxia, Abnormality of the optic ner... ORPHA:33445
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy OMIM:613672
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Iris coloboma, Microcornea, White for... OMIM:601706
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Acanthocytosis, Hyperammonemia, Schistocytosis OMIM:616457
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Reticulocytopenia, Short stature, Leukopenia, Macrocytic anemia OMIM:612528
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Mcleod Syndrome
Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Abnormal erythrocyte morp... OMIM:300842
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 9
Pallor OMIM:616289
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Cataract, Spastic gait, Gait ataxia OMIM:617133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
8P11.2 Deletion Syndrome
Hemolytic anemia, Growth delay, Short stature, Splenomegaly, Spherocytosis ORPHA:251066
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Optic Atrophy 5
Optic atrophy OMIM:610708
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Abnormal anterior cham... ORPHA:42665
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Gait ataxia, Fair hair OMIM:618808
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Growth delay OMIM:601815
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Decreased circulating ferritin concentration ORPHA:54028
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Aniridia 3
Cataract OMIM:617142
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616451
Amme Complex
Elliptocytosis OMIM:300194
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Ataxia OMIM:608611
Nephronophthisis
Anemia ORPHA:655
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:2815
Congenital Atransferrinemia
Anemia ORPHA:1195
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia, Intrauterine growth retardation OMIM:617021
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Oslam Syndrome
Abnormality of neutrophils, Short stature, Increased mean corpuscular volume ORPHA:2760
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Growth delay, Increased circulating ferritin con... ORPHA:3240
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Retinitis Pigmentosa 70
Pallor OMIM:615922
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal reticulocyte morphology ORPHA:2522
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:250940
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Neurodegeneration With Brain Iron Accumulation
Chorea, Dystonia, Optic atrophy, Retinopathy ORPHA:385
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis OMIM:271930
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Spastic Paraplegia 5A, Autosomal Recessive
Limb dysmetria, Cataract, Spastic gait, Impaired vibration sensation in the lower limbs, Impaired... OMIM:270800
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Autosomal Erythropoietic Protoporphyria
Abnormal circulating porphyrin concentration, Microcytic anemia ORPHA:79278
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Microcytic anemia OMIM:618852
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Subcapsular cataract, Dysmetria, Decreased nerve conduction velocity, D... OMIM:612674
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Macrocytic anemia OMIM:615578
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Growth delay, Hypoalbuminemia OMIM:226300
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Growth delay OMIM:250800
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Progressive inability to walk, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Optic atrophy OMIM:616859
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Ataxia, Optic atrophy ORPHA:329314
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Difficulty walking, Chorea, Ataxia, Peripheral axonal neuropathy, Optic atrophy OMIM:615673
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Ataxia OMIM:610951
Chylomicron Retention Disease
Growth delay, Hypocholesterolemia, Acanthocytosis ORPHA:71
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Decreased nerve conduction velocity, Optic atr... ORPHA:98890
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Gait disturbance, Iris coloboma, Micr... ORPHA:3214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, P... OMIM:609260
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Usher Syndrome, Type Iiib
Optic disc pallor, Truncal ataxia, Ataxia OMIM:614504
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Short stature, Decreased mean corpuscular volume,... OMIM:611590
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Optic Atrophy With Demyelinating Disease Of Cns
Peripheral demyelination, Optic atrophy, Ataxia, Optic neuritis OMIM:165200
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Chorea, Progressive cerebellar ataxia, Dysmetria, Optic atrophy, ... OMIM:164500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Optic atrophy OMIM:210000
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Growth delay, Hyperbilirubinemia, Hyponatremia, Neutropeni... ORPHA:1667
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia OMIM:616881
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Increased serum pyruvate, Growth delay, Hyperalaninemia, Anemia OMIM:619147
Urocanase Deficiency
Tremor, Blue irides, Ataxia, Fair hair OMIM:276880
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Short stature, Pancytopenia, Anemia OMIM:616435
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Abnormal erythrocyte morphology, Postnatal growth retardation, Hypocholeste... ORPHA:96180
Retinitis Pigmentosa 73
Pallor OMIM:616544
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Gait disturbance, Onion bulb formation, Distal ... OMIM:311070
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Diamond-Blackfan Anemia 11
Short stature, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Ataxia, Optic atrophy ORPHA:1186
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Abnormal circulating eicosanoid concentration, Decreased circulating 12-H... OMIM:618372
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Neutropenia, Microcytic anemia OMIM:251900
Spastic Paraplegia 55, Autosomal Recessive
Difficulty walking, Onion bulb formation, Peripheral axonal neuropathy, Distal sensory impairment... OMIM:615035
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Hyperammonemia, Macrocytic anemia ORPHA:27
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia, Short stature ORPHA:2720
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Optic atrophy OMIM:617282
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... OMIM:203200
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Reduced erythrocyte ... OMIM:232800
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Growth delay, Sideroblastic anemia, B lymphocytopenia, Splenomegal... OMIM:616084
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Ataxia, Partial albinism, Retinopathy ORPHA:79476
Hyperlysinemia, Type I
Hyperlysinemia, Anemia OMIM:238700
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Thrombocytopenia, Granulocytopenia, Short stature OMIM:233600
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Short stature, Anemia OMIM:617243
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Autosomal Recessive Spastic Paraplegia Type 45
Spastic gait, Optic atrophy ORPHA:320396
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Postnatal growth retardation, Delayed puber... OMIM:212750
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Merrf
Optic atrophy, Ataxia ORPHA:551
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, Short stature, Hepatosplenomegaly OMIM:619013
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Splenomegaly OMIM:602390
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Growth delay, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Nathalie Syndrome
Cataract ORPHA:2663
Alpha-Heavy Chain Disease
Hypocalcemia, Growth delay, Anemia, Splenomegaly ORPHA:100025
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Pigmentary re... OMIM:609033
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Short stature, Anemia OMIM:618165
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia, Macrocytic anemia OMIM:619046
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Conjugated hyperbilirubinemia, Postnatal growth retardation, Short stature, Hepat... ORPHA:168577
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Normocytic anemia, Delayed puberty, Normochromic anemia, Short s... OMIM:611881
Peroxisome Biogenesis Disorder 8B
Ataxia, Retinal dystrophy, Cataract, Dysmetria, Optic atrophy OMIM:614877
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Growth delay OMIM:613561
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy ORPHA:3156
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Intellectual Developmental Disorder, X-Linked 104
Tremor, Optic atrophy, Ataxia, Hyperactivity OMIM:300983
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia ORPHA:1171
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Isolated Sedoheptulokinase Deficiency
Short stature, Hypochromic microcytic anemia, Severe postnatal growth retardation, Anemia ORPHA:440713
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Spastic ataxia, Dysmetria, Optic atrophy, Broad-based gait OMIM:270500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Gait disturbance, Focal dystonia, Limb dystonia, Oromandibular dystonia, Optic at... ORPHA:216873
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Short stature, Thiamine-responsive megaloblastic anemia OMIM:249270
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Ataxia, Wh... OMIM:277580
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Bradykinesia, Hemidystonia OMIM:619052
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Short stature, Decreased... OMIM:618885
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uveitis, Vitreoretinop... OMIM:193235
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Flynn-Aird Syndrome
Ataxia, Cataract, Alopecia of scalp, Alopecia, Rod-cone dystrophy OMIM:136300
Methylcobalamin Deficiency Type Cble
Neutropenia, Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Hypomet... ORPHA:2169
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981