Gene: Pknox1 MGI:1201409

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Gene Summary

Name:
Pbx/knotted 1 homeobox
Synonyms:
PREP1,  D17Wsu76e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased hemoglobin content Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 3.43×10-08
abnormal urination Pknox1Gt(EUCJ0079d10)Hmgu HET   Early adult 3.65×10-05
decreased IgG1 level Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 9.98×10-05
decreased mature B cell number Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 6.01×10-08
decreased mean corpuscular hemoglobin concentration Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 2.95×10-06
decreased B cell number Pknox1Gt(EUCJ0079d10)Hmgu HET   Early adult 4.72×10-05
increased circulating alanine transaminase level Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 8.18×10-05
decreased T cell number Pknox1Gt(EUCJ0079d10)Hmgu HET Early adult 6.13×10-05

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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.

Phenotype associated images not available

Human diseases caused by Pknox1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pknox1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 40
Lymphopenia OMIM:616433
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Increased alpha-globulin OMIM:235900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Cafe-au-lait spot, Anemia, Splenomegaly, Decreased mean corpuscular vo... OMIM:615234
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Gl... OMIM:247800
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Hepatomegaly, Congestive heart fa... ORPHA:163596
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Lens subluxation, Retinal detachment ORPHA:171844
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration, Pallor OMIM:610381
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Throm... ORPHA:858
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Pallor, Optic disc pallor OMIM:609021
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Abnormal B cell count, Bence Jones Proteinuria... ORPHA:100024
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Degenerative liver disease, Pallor, Cone dystrophy, Optic disc ... OMIM:268040
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Patent duct... ORPHA:290
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Retinal dystrophy, Thrombocytopenia, Congest... ORPHA:49827
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Pallo... OMIM:613750
Microspherophakia-Metaphyseal Dysplasia
Lens subluxation, Microspherophakia, Retinal detachment, Lens coloboma OMIM:157151
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Hyperpigmentation of the skin, Anemia, Splenomegaly, Pallor ORPHA:75563
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lack of T ce... ORPHA:277
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Retinitis Pigmentosa 42
Pallor, Rod-cone dystrophy OMIM:612943
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Anemia, Splenomegal... ORPHA:848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Intrauterine g... ORPHA:295
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia, Edema, Intrauterine growth retarda... OMIM:189800
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Retinitis Pigmentosa 60
Pallor, Rod-cone dystrophy OMIM:613983
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Apolipoprotein A-I Deficiency
Corneal opacity, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Increased CD4:CD8 ratio, Impaired lymphocyte tran... OMIM:617006
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Eosinophilia, B lymphocytop... OMIM:603554
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration, Pallor OMIM:615922
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Jaundice, Thrombocytopenia, Pancytopenia, Pallor OMIM:613839
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Optic Atrophy 9
Optic atrophy, Pallor OMIM:616289
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate produ... OMIM:613673
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Leukocytosis, Lymphedema, Thrombocytopenia, Hepatomegaly, Abnormality of... ORPHA:3226
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in presence of a... ORPHA:1959
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Pa... ORPHA:824
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy, Cardiomyopathy OMIM:609016
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens ORPHA:85194
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Microphthalmia, Intrauterine gro... ORPHA:1466
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Pallor, Rod-cone dystrophy OMIM:617717
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Hepatomegaly, Pancytopenia, Thromb... ORPHA:507
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Abnormal retinal morphology, Pallor, Hypopigmentation of the ... ORPHA:2786
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Inc... ORPHA:98870
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morpholo... ORPHA:98375
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased circulating bet... ORPHA:572
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Leber Congenital Amaurosis 14
Pallor, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy, Pallor OMIM:616544
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy, Cataract, Congenital hepati... ORPHA:3156
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve sten... OMIM:614819
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Pleural effusion, Pedal edema, ... ORPHA:33226
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Leukocytosis, Pedal edema, Thrombocytopenia, Acute myeloid leukemia,... ORPHA:86839
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Neutropenia, B lymphocytopenia OMIM:601495
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Dermatitis, Atopic
Keratoconus, Facial erythema, Cataract, Conjunctivitis, Pallor, Dry skin OMIM:603165
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Premature skin wrinkling, Thrombocytopenia, Edema, Anemia, Hepatosple... ORPHA:101028
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Corneal erosion, Erythema, Generalized hyperpigmentation, Re... ORPHA:816
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Abnormality of retinal pigmentation, Intrauterine growth retardation ORPHA:2515
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutrop... OMIM:612541
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Conjunctivitis, Edema, A... OMIM:603552
Retinitis Pigmentosa 81
Pallor OMIM:617871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly, Pallor ORPHA:90037
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Corneal ... ORPHA:137675
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Pigmentary retinopathy, Hepatomegaly, Optic atrophy, Rod-cone dyst... OMIM:264470
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Pallor, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy, Anemia, Hypertrophic cardiomyopathy ORPHA:255241
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Mulibrey Nanism
Hydrops fetalis, Pigmentary retinopathy, Iris coloboma, Hepatomegaly, Congestive heart failure, A... OMIM:253250
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
American Trypanosomiasis
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Edema, Myocarditis, Periorbital... ORPHA:3386
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Hepatomegaly, Cataract, Fundus atrophy OMIM:204000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Kniest Dysplasia
Lens luxation, Lattice retinal degeneration, Degenerative vitreoretinopathy, Cataract, Rhegmatoge... ORPHA:485
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom... OMIM:613313
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Multiple cafe-au-lait spots, Leukemia OMIM:614082
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Hepatomegaly, Thrombocytopenia, Ascite... ORPHA:2123
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Angina pectoris, Pancytopenia, Pulmonary embolism, Myocardial infarction, Hypop... ORPHA:447
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Tach... ORPHA:90033
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Abnormal T cell morphology, Decreased circulating IgA level, Nephrotic syn... OMIM:215250
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating IgA l... OMIM:275350
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Focal pan... ORPHA:276575
Tempi Syndrome
Increased hematocrit, Facial erythema, Intracranial hemorrhage, Polycythemia, Ascites, Telangiect... ORPHA:284227
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Death in childhood, Anemia, Pallor OMIM:246450
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H... ORPHA:276556
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Edema, Hypermelanotic macule, Cutaneous mas... OMIM:154800
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Hepat... ORPHA:98849
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Hyperpigmentation of... OMIM:604250
Sepsis In Premature Infants
Purpura, Hypotension, Leukocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Decrea... ORPHA:90051
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Optic atrophy, ... OMIM:611490
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H... ORPHA:276580
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Edema ORPHA:79278
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Malaria
Thrombocytopenia, Retinopathy, Anemia ORPHA:673
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Srd5A3-Cdg
Elevated hepatic transaminase, Coloboma, Microcytic anemia, Optic disc hypoplasia, Cataract, Spot... ORPHA:324737
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Hemochromatosis, Type 4
Cataract, Arrhythmia, Anemia, Cardiomyopathy OMIM:606069
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Thrombocytopenia, Dehydration, Pancreatitis, Leukopenia, Anemia, Optic atrophy, Car... ORPHA:27
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Retinal capillary hemangioma, Pancreatic cysts, Pancreatic islet cell a... ORPHA:892
Refsum Disease
Abnormality of retinal pigmentation, Heart block, Cataract, Microphthalmia, Splenomegaly, Retinop... ORPHA:773
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Hepatosplenomegaly, Anemia OMIM:608898
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma, Palpebral edema ORPHA:1259
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Hypotension, Leukocytosis, Acute pancreatitis, Hep... ORPHA:20
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dysgenesis, Micropht... ORPHA:324416
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia, In... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia, In... OMIM:618839
Focal Segmental Glomerulosclerosis 1
Anemia, Edema, Hypertension OMIM:603278
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hyperpigmentation of the skin,... ORPHA:158029
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Hepatomegaly, Thrombocytopenia, Dehydration, Pancreatitis, Splenomegaly, Anemia, Opt... ORPHA:79312
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Fanconi Anemia, Complementation Group I
Neutropenia, Optic nerve hypoplasia, Microphthalmia, Cafe-au-lait spot, Intrauterine growth retar... OMIM:609053
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Patent ductus arteriosus, Cholestasis, Hepatomegaly, Thrombocytopenia, Decreased... OMIM:608104
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Lens luxation, Lack of skin elasticity, Ectopia lentis, Microspherophak... OMIM:608328
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Aminoaciduria, Sideroblastic... OMIM:616084
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope ORPHA:324575
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Hypospadias, Micropenis OMIM:250790
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Palpebral edema, Intrahepatic biliary dysgenesis, Hepat... OMIM:214110
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Anemia, Hematochezia ORPHA:329971
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Erythema, Edema, Hepatic failure OMIM:177000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Fumarase Deficiency
Polycythemia, Cholestasis, Hepatic failure, Optic atrophy, Pallor OMIM:606812
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Hyperlysinemia, Type I
Ectopia lentis, Anemia OMIM:238700
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Klippel-Trénaunay Syndrome
Hydrops fetalis, Gastrointestinal hemorrhage, Internal hemorrhage, Microcytic anemia, Patent duct... ORPHA:90308
Anti-Glomerular Basement Membrane Disease
Vasculitis, Retinal detachment, Anemia, Purpura ORPHA:375
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Oligohydramnios, Patent ductus arteriosus, Hepatic fibrosis, H... OMIM:606003
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation, Dry skin ORPHA:3085
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Palpebral edema, Intrahepatic biliary dysgenesis, Hepat... OMIM:614866
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Hypoplasia of the thymus OMIM:243150
Incontinentia Pigmenti
Abnormality of skin pigmentation, Leukocytosis, Retinal vascular proliferation, Erythema, Catarac... OMIM:308300
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Bone-marrow foam cells,... OMIM:278000
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism, Chronic hepa... ORPHA:3260
Thrombocytopenia 5
Epistaxis, Neutropenia, Thrombocytopenia, Petechiae, Anemia OMIM:616216
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Beta-Ketothiolase Deficiency
Thrombocytosis, Hypotension, Leukocytosis, Hypertension, Hepatomegaly, Dehydration, Edema, Pallor ORPHA:134
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Anemia ORPHA:28
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Takayasu Arteritis
Hypertensive crisis, Hypertension, Myocardial infarction, Cerebral ischemia, Anemia, Pulmonary ar... ORPHA:3287
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Optic atrop... OMIM:222300
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae, Anemia, Splenomeg... OMIM:612840
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Elevated hepatic transaminase, Coloboma, Microcytic anemia, Cut... OMIM:612379
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Anemia, Leukopenia, Skin ulcer ORPHA:33355
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:100025
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation, Telangiectasia of the ... ORPHA:3019
Senior-Loken Syndrome 1
Rod-cone dystrophy, Anemia OMIM:266900
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Elevated hepatic transaminase, ... ORPHA:398124
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Pericardial effusion, Large clumps of pigment irregularly distributed alo... ORPHA:167
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Gaucher Disease, Type I
Macular atrophy, Epistaxis, Hypertension, Hepatomegaly, Pancytopenia, Aortic valve stenosis, Thro... OMIM:230800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Neonatal Adrenoleukodystrophy
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of the liver ORPHA:44
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia ORPHA:90045
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Patent ductus arteriosus, Pulmonic s... OMIM:277600
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Idiopathic Aplastic Anemia
Epistaxis, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... ORPHA:88
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Cinca Syndrome
Leukocytosis, Lymphedema, Papilledema, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Senior-Loken Syndrome 8
Macular atrophy, Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Aceruloplasminemia
Hypochromic microcytic anemia, Abnormality of retinal pigmentation, Retinal degeneration, Abnorma... ORPHA:48818
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu... ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Increased hepatocellular lipid droplets, Hepatomegaly, Decreased liver fu... OMIM:220110
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Leukocytosis, Abnormal macrophage morphology, Peric... ORPHA:292
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomeg... OMIM:259720
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Lipodystrophy, Familial Partial, Type 7
Pancreatitis, Developmental cataract, Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hepatomegaly, Decreased liver function, Anemia, Optic atrophy, Hypertroph... ORPHA:436271
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Iron deficiency anemia, Arrhythmia, Right ventricular failure, E... ORPHA:100076
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Pigmentary retinopathy, Subcapsular cataract, Rod-cone dystrophy, ... OMIM:268020
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Senior-Loken Syndrome 4
Rod-cone dystrophy, Anemia OMIM:606996
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, He... ORPHA:5
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Intracranial hemorrhage, Melanocytic... ORPHA:2481
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Cardiogenic shock, Reduced... ORPHA:563
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Macular atrophy, Left ventricular systolic dysfunction, ... OMIM:145350
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Lymphedema, Pleural effusion, Scali... ORPHA:2526
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration OMIM:520000
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Kearns-Sayre Syndrome
Arrhythmia, Pigmentary retinopathy, Sideroblastic anemia, Third degree atrioventricular block, Ca... OMIM:530000
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoconus, Abnormality of retinal pigmentation, Keratoglobus OMIM:108145
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Pigmentary retinopathy, Megaloblastic anemia, Subdural h... ORPHA:79282
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Hyperpigmentation ... OMIM:227645
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia, Pancreatitis, Optic atrophy ORPHA:289916
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormality of the liver ORPHA:474
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Cinca Syndrome
Purpura, Leukocytosis, Abnormality of neutrophils, Abnormal granulocyte morphology, Retrobulbar o... ORPHA:1451
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Death in infancy, Cataract, Opt... ORPHA:1493
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Th... OMIM:600901
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Coach Syndrome 2
Chorioretinal coloboma, Elevated hepatic transaminase, Coloboma, Hypertension, Hepatic fibrosis, ... OMIM:619111
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Myelofibrosis
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia, Coloboma, Intrauterine growth retardation OMIM:615665
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Spont... OMIM:214500
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy OMIM:252011
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Th... OMIM:227650
Bazex Syndrome
Lip hyperpigmentation, Scaling skin, Edema, Anemia ORPHA:166113
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Skin ulcer ORPHA:1117
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of inadequate production, Acanthocytosi... OMIM:300367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Dry skin OMIM:618116
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Edema, Macular edema OMIM:268100
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level, Leukopenia, R... ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy... OMIM:617388
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Aniridia, Retinal capillary hemangioma, Hypertension associated with pheochromocyto... ORPHA:29072
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Enuresis, Hyperoxaluria, Decreased glomerular filtration rate, Calcinosis, Ab... ORPHA:93598
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Death in adolescence, Pigmentary retinopathy OMIM:619059
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Multiple Sulfatase Deficiency