Gene Summary

RAB19, member RAS oncogene family

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 circulating calcium level Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.88×10-05
increased heart weight Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-09
increased eosinophil cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.48×10-05
corneal opacity Rab19tm1b(EUCOMM)Hmgu HOM Early adult 3.98×10-05
abnormal contextual conditioning behavior Rab19tm1b(EUCOMM)Hmgu HOM Early adult 5.90×10-05
decreased large unstained cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.43×10-08
increased cornea thickness Rab19tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05

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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.


XRay Images Whole Body Lateral Orientation

13 Images


XRay Images Whole Body Dorso Ventral

13 Images


Panel A FCS file(s)

6 Images


Panel B FCS file(s)

6 Images

Human diseases caused by Rab19 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 Rab19 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment, Splenomegaly, Hepatomegaly ORPHA:172
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly ORPHA:1980
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Hepatomegaly ORPHA:2432
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Corneal opacity ORPHA:351
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:100025
Morquio Syndrome C
Corneal opacity OMIM:252300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypo... ORPHA:1067
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Hypertriglyce... OMIM:612526
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Loeffler Endocarditis
Eosinophilia, Myocardial fibrosis, Abnormal heart valve morphology, Aortic valve stenosis, Abnorm... ORPHA:75566
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B ly... OMIM:603554
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Halothane Hepatitis
Eosinophilia OMIM:234350
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity, Abnormal heart valve morphology, Abnormal aortic valve mor... ORPHA:577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, E... OMIM:617388
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia OMIM:618523
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Cardiomegaly OMIM:601005
Kimura Disease
Eosinophilia ORPHA:482
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity ORPHA:1532
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:36913
Decreased eosinophil count OMIM:131430
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Mitral valve ... OMIM:229200
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Fish-Eye Disease
Corneal opacity, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Wells Syndrome
Eosinophilia ORPHA:901
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:94089
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy OMIM:616651
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:93476
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Progressive neurologic deterioration OMIM:252650
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Cataract, Mitral valve prolapse ORPHA:1563
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Congenital Rubella Syndrome
Atrial septal defect, Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Anemia, Aplasia/Hypo... ORPHA:290
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation, Conju... ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Hyperthreoninemia, Hepatomegaly OMIM:204000
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Oculocerebrodental Syndrome
Hypocalcemia, Developmental cataract, Hypercalcemia ORPHA:557003
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Oculoskeletodental Syndrome
Developmental cataract, Hypercalcemia, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:618440
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy OMIM:618815
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcy... OMIM:259720
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia ORPHA:39041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocardi... ORPHA:31824
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity, Left ventricular h... OMIM:613153
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Hypercalcemia ORPHA:55881
Sanjad-Sakati Syndrome
Hyperphosphatemia, Astigmatism, Corneal opacity, Hypocalcemia ORPHA:2323
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:259700
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Aniridia, Asplenia OMIM:602361
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Hemolytic anemia, Hypertr... ORPHA:650
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Sialidosis Type 2
Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:87876
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Keratitis, Eosinophilia, Neutropenia ORPHA:1163
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Mental deterioration OMIM:618476
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Atrial septal defect, Hypocalcemia... ORPHA:26793
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Transient hypophosphatemia, Hypocalcemia, Anemia, Hyperphosphatemia OMIM:127000
Double Outlet Right Ventricle
Tetralogy of Fallot, Hypocalcemia, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic ... ORPHA:3426
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Juvenile Nephropathic Cystinosis
Hypokalemia, Abnormal cornea morphology, Elevated circulating creatinine concentration, Hyponatre... ORPHA:411634
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Decreased corneal thickness, Mitral valve prol... ORPHA:90354
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Abnormal heart valve morphology OMIM:252700
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Dementia, Opacification of the cornea... OMIM:310600
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Bone marrow hypocellularity, Cataract, Hypocalcemi... ORPHA:699
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Cystic Echinococcosis
Eosinophilia, Hepatomegaly, Abnormal heart morphology, Hyperbilirubinemia, Peritoneal abscess, Sp... ORPHA:400
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Pseudohypoparathyroidism, Type Ia
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Ca... OMIM:617713
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:61
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Interstitial cardiac fibrosis, Cognitive impairment, Hypereosinophilia, Myocarditis, Elevated cir... ORPHA:801
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Cor pulmonale, Abnormal T cell morphology OMIM:215250
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Scheie Syndrome
Corneal opacity, Aortic valve stenosis OMIM:607016
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:235255
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia, Pericardial ef... OMIM:618183
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macrocytic anemia ORPHA:199299
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Myopic astigmatism OMIM:152950
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Cataract, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany... ORPHA:79444
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Myocarditis ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Rapid neurologic deterioration ORPHA:585
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Myocarditis, Endocard... ORPHA:183
Incontinentia Pigmenti
Eosinophilia, Cognitive impairment, Cataract, Corneal opacity, Keratitis ORPHA:464
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Cataract, Hypocalcemia, Calcinosis, Hyperphosphatemia, H... ORPHA:79443
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Cataract, Corneal opacity ORPHA:1867
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Left ventricular hypertrophy, Cardiomyopathy ORPHA:746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal... ORPHA:1655
Netherton Syndrome
Hypereosinophilia OMIM:256500
Velocardiofacial Syndrome
Posterior embryotoxon, Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect OMIM:192430
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Tangier Disease
Splenomegaly, Hepatomegaly, Opacification of the corneal stroma, Left ventricular hypertrophy, De... OMIM:205400
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Opacificat... OMIM:231005
Cartilage-Hair Hypoplasia
Cognitive impairment, Hypocalcemia, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Abnormal c... ORPHA:175
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly, Abnormal heart morpho... ORPHA:93399
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Anemia, Hypercalcemia ORPHA:436
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Memory impairment, Leukocytosis, Thromb... ORPHA:3260
Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:93474
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Hepato... ORPHA:508533
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Decreased corneal thickness ORPHA:293967
Incontinentia Pigmenti
Keratitis, Eosinophilia, Cataract, Leukocytosis OMIM:308300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Corneal opacity, Hepatomegaly, Double outlet right ventricle, Pulmonic s... OMIM:301056
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemia, Hypocalcemic tetany, Hypomagnesemia, Pericardial effusion ORPHA:73224
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Corneal opacity, Anemia, Hypertriglyceridemia, Hypo... ORPHA:31150
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Hypocalcemia, Macrocytic anemia OMIM:212750
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly ORPHA:812
Zellweger Syndrome
Cognitive impairment, Posterior embryotoxon, Cataract, Corneal opacity, Hepatomegaly, Ventricular... ORPHA:912
Multiple Sulfatase Deficiency
Corneal opacity, Rapid neurologic deterioration, Hepatomegaly, Splenomegaly OMIM:272200
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Increased blood urea nitrogen, Progressive psychomotor deteriorat... ORPHA:251004
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Corneal op... ORPHA:1830
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:496790
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Hypocalcemia, Hepatomegaly, Elevated circu... ORPHA:2785
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Igg4-Related Pachymeningitis
Eosinophilia, Mental deterioration, Elevated circulating C-reactive protein concentration ORPHA:449427
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Alveolar Echinococcosis
Eosinophilia, Abnormal pericardium morphology, Cutaneous abscess, Abnormal spleen morphology, Ane... ORPHA:284
Congenital Sialidosis Type 2
Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opacity, Hepatomegaly, Abnormal hea... ORPHA:93400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Anemia, Hyperbilirubinemia, Ventricular septal defect, Thromb... ORPHA:163979
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, Atrial septal defect, Anemia... OMIM:274000
Hypokalemia, Corneal opacity, Hypophosphatemia ORPHA:213
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Hemolytic anemia, Thrombocyt... ORPHA:544482
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic valve stenosis, Increased serum beta-hexosaminidase OMIM:252605
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Tricuspid atresia, Posterior embryotoxo... ORPHA:567
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Cardiomegaly, Corneal opacity, Hepatomegaly ORPHA:349
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Danon Disease
Dilated cardiomyopathy, Cognitive impairment, Hypertrophic cardiomyopathy, Elevated circulating c... OMIM:300257
Wilson Disease
Kayser-Fleischer ring, Dementia, Hepatomegaly, Hemolytic anemia, High nonceruloplasmin-bound seru... OMIM:277900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypereosinophilia ORPHA:74
Schimke Immunoosseous Dysplasia
Astigmatism, Thrombocytopenia, Neutropenia, Anemia, Opacification of the corneal stroma, Lymphope... OMIM:242900
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly OMIM:607015
Gm1 Gangliosidosis
Cognitive impairment, Hepatosplenomegaly, Corneal opacity, Splenomegaly, Abnormal heart morpholog... ORPHA:354
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Wilson Disease
Kayser-Fleischer ring, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia ORPHA:905
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Hypophosph... ORPHA:667
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Cognitive impairment, Splenomegaly, Abnormal heart valve mor... ORPHA:583
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Hurler Syndrome
Hepatosplenomegaly, Endocardial fibroelastosis, Corneal opacity, Splenomegaly, Hepatomegaly, Prog... OMIM:607014
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Pericardial effusion, Splenomegaly ORPHA:2136
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Lowry-Maclean Syndrome
Atrioventricular canal defect, Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Abnormal heart valve morphology ORPHA:582
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Eosinophilia, Cognitive impairment, Granuloma, Abnormality of the spleen, Pericarditis, Abscess ORPHA:228123
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Atrial septal defect,... OMIM:613001
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Re... ORPHA:137596
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypermagnesemia, Hypomagnesemia, Pericardial e... ORPHA:358
Eosinophilia, Leukopenia, Hypercalcemia, Increased T cell count, Abnormal conjunctiva morphology,... ORPHA:797
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Cognitive impairment, Hyperlipid... ORPHA:324
Digeorge Syndrome
Tetralogy of Fallot, Sclerocornea, Posterior embryotoxon, Hypocalcemia, Splenomegaly, Anemia, Ven... OMIM:188400
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tropical Endomyocardial Fibrosis
Eosinophilia, Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Res... ORPHA:75565
Familial Dysautonomia
Heterochromia iridis, Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion ORPHA:1764
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Pseudo-Torch Syndrome 1
Patent foramen ovale, Cataract, Splenomegaly, Hepatomegaly, Opacification of the corneal stroma, ... OMIM:251290
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly ORPHA:584
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Alagille Syndrome
Corneal dystrophy, Atrial septal defect, Hepatomegaly, Abnormal pupil morphology, Ventricular sep... ORPHA:52
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:253220
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Hypoc... ORPHA:83471
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Farber Disease
Hepatosplenomegaly, Abnormal conjunctiva morphology, Corneal opacity, Anemia, Opacification of th... ORPHA:333
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Keratoconus, Mitral va... ORPHA:3071
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia... ORPHA:466650
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Cataract, Corneal opacity, Deme... ORPHA:581
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Hepatomegaly, Abnormal heart morphology, Opacification of the corneal stroma, Brushfiel... OMIM:214110
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Anemia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Mosaic Trisomy 9
Abnormal heart valve morphology, Endocardial fibroelastosis, Atrial septal defect, Corneal opacit... ORPHA:99776
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Igg4-Related Ophthalmic Disease
Keratitis, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:284160
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Blue irides ORPHA:280651
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Cataract, Splenomegaly, Hepatomegaly, Abnormal heart morphology, Opacificatio... OMIM:614866
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Ventricular septal defect, Iris coloboma ORPHA:251038
Cranioectodermal Dysplasia 1
Hepatomegaly, Hypocalcemia, Bicuspid aortic valve OMIM:218330
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Igg4-Related Kidney Disease
Eosinophilia, Enlarged kidney, Decreased retinol-binding protein level, Elevated circulating crea... ORPHA:449395
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Abnormal heart morphology, Anterior chamber syn... OMIM:601499
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... ORPHA:85451
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Hypercholesterolemia, Familial, 2
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Charge Syndrome
Overriding aorta, Tetralogy of Fallot, Atrial septal defect, Dysplastic tricuspid valve, Cataract... OMIM:214800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Warburg-Cinotti Syndrome
Sterile abscess, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency, Corneal ... OMIM:618175
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Abnormal aortic valve morphology,... ORPHA:579
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis OMIM:228100
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Axenfeld anomaly, Patent foramen ovale, Posterior embryotoxon, Atrial septal... OMIM:612582
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Ventricular septal defect ORPHA:77298
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Focal Dermal Hypoplasia
Cognitive impairment, Hypoplasia of the iris, Ectopia lentis, Corneal opacity, Ventricular septal... ORPHA:2092
Developmental cataract, Hypercalcemia OMIM:171300
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Cognitive impairment, Abnormal heart valve morphology, Abnor... ORPHA:580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Atrial septal defect, Astigmatism, Abnormal heart morphology, Restrictive cardiomy... ORPHA:369837
Hurler Syndrome
Abnormal heart valve morphology, Endocardial fibroelastosis, Corneal opacity, Splenomegaly, Hepat... ORPHA:93473
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Tbck-Related Intellectual Disability Syndrome
Cognitive impairment, Abnormal circulating lipid concentration, Corneal opacity, Pulmonic stenosi... ORPHA:488632
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Hepatomegaly, Anemia, Hyperbilirubinemi... ORPHA:88673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Cognitive impairment OMIM:601853
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation, Hypotriglyceridemia ORPHA:85167
Gaucher Disease
Pancytopenia, Abnormal myocardium morphology, Abnormal heart valve morphology, Abnormal pericardi... ORPHA:355
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Arterial Tortuosity Syndrome
Keratoconus, Aortic valve stenosis, Ventricular hypertrophy OMIM:208050
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Ocular Cystinosis
Corneal crystals ORPHA:411641
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca... ORPHA:2363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Peters anomaly, Elevated circulating creatine kinase concentration, Bu... OMIM:236670
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Megal... ORPHA:137675
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Cognitive impairment, Hepatosplenomegaly, Abnormal tricuspid... ORPHA:217085
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Cognitive impairment, Hepatosplenomegaly, Abnormal tricuspid... ORPHA:217093
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Subvalvular aortic stenosis, Hypocalcemia, Muscular ventricular septal defect... OMIM:619503
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Monosomy 13Q34
Infantile hypercalcemia, Common atrium, Pulmonic stenosis ORPHA:96168
Fryns Syndrome
Tetralogy of Fallot, Corneal opacity, Abnormal cardiac septum morphology ORPHA:2059
Carpenter Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Microcornea, Pulmonic stenosis, Ventricular septal def... OMIM:201000
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Mitral valve prolapse, Peripheral opacification of the cornea OMIM:259600
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Microcornea, Cataract, Hepatomegaly, Anisopoikilocytosis, Abnormal platelet morphology, Opacifica... ORPHA:46059
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Histiocytoid cardiomyopathy, Sclerocornea, Atrial septal defect, Cataract, Vent... OMIM:309801
Infantile Nephropathic Cystinosis
Hypokalemia, Cognitive impairment, Abnormal cornea morphology, Abnormal blood ion concentration, ... ORPHA:411629
Chime Syndrome
Tetralogy of Fallot, Corneal opacity, Pulmonary valve atresia, Ventricular septal defect, Acute l... ORPHA:3474
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Keratoglobus, Hypertrophic cardiomyopathy... ORPHA:3342
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Corneal opacity, Hypoalbuminemia ORPHA:79396
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Opa... OMIM:252500
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Cataract, Astigmatism, Corneal opacity ORPHA:309282
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Elevated alpha-fetoprotein, Corneal opacity, Hepatomegaly OMIM:615273
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Subvalvular aortic stenosis, Cataract, Corneal opacity, Acute lymphoblastic... ORPHA:1052
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Opacification of the... OMIM:253200
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Gapo Syndrome
Keratoconus ORPHA:2067
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Phace Syndrome
Tetralogy of Fallot, Heterochromia iridis, Sclerocornea, Cataract, Abnormal heart morphology, Len...