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 large unstained cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.43×10-08
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 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 cornea thickness Rab19tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

13 Images


XRay Images Whole Body Lateral Orientation

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, Hypocalcemia, T lymphocytopenia DECIPHER:16
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... OMIM:607685
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy 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
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment, Splenomegaly, Hepatomegaly ORPHA:172
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity, Hepatomegaly ORPHA:1980
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Juvenile Temporal Arteritis
Conjunctivitis, Leukocytosis, Eosinophilia ORPHA:26137
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Microcornea ORPHA:2432
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Corneal opacity ORPHA:351
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:100025
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Morquio Syndrome C
Corneal opacity OMIM:252300
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Abnormal heart morphology, Corneal opacity, Persistent ... ORPHA:1067
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splen... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Loeffler Endocarditis
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... ORPHA:75566
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Mucolipidosis Type Iii
Cognitive impairment, Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal ... ORPHA:577
Halothane Hepatitis
Eosinophilia OMIM:234350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia OMIM:618523
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Au... OMIM:617388
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot OMIM:601005
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity ORPHA:1532
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Kimura Disease
Eosinophilia ORPHA:482
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Decreased eosinophil count OMIM:131430
Cinca Syndrome
Anemia, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, ... OMIM:607115
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Cognitive impairment, Cataract, Hypocalcemia OMIM:612462
Brittle Cornea Syndrome 1
Keratoglobus, Mitral valve prolapse, Abnormal cornea morphology, Decreased corneal thickness, Ker... OMIM:229200
Autoimmune Hypoparathyroidism
Conjunctivitis, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Hypocalcemic seizures, Hypocalc... ORPHA:36913
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... OMIM:620058
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Hepatomegaly ORPHA:79292
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia, Splenomegaly OMIM:615387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia OMIM:175500
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Hy... ORPHA:90362
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy ORPHA:93476
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:616651
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Leber Congenital Amaurosis 1
Hyperthreoninemia, Cataract, Keratoconus, Hepatomegaly OMIM:204000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon ORPHA:1473
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Mitral valve prolapse ORPHA:1563
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Hypocalcemia, Recurrent cutaneous abscess formation, Thrombocytopenia, Ne... ORPHA:47
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Cataract... ORPHA:290
Mucolipidosis Iv
Progressive neurologic deterioration, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract OMIM:618815
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Developmental cataract ORPHA:557003
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Wells Syndrome
Eosinophilia ORPHA:901
Oculoskeletodental Syndrome
Developmental cataract, Hypercalcemia, Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:618440
Omenn Syndrome
Anemia, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... OMIM:602450
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis OMIM:618282
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Cor pulmonale, Opacific... OMIM:158310
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly ORPHA:2123
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, N... OMIM:245900
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Sanjad-Sakati Syndrome
Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:259700
Hypercalcemia ORPHA:55881
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Aniridia OMIM:602361
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Osteopetrosis, Autosomal Recessive 5
Anemia, Mydriasis, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromi... OMIM:259720
Lcat Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... ORPHA:650
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... ORPHA:94089
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus OMIM:603165
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Keratitis, Neutropenia, Eosinophilia ORPHA:1163
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Sialidosis Type 2
Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:87876
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Norrie Disease
Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior chamber, Cataract, Co... OMIM:310600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... ORPHA:26793
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Left ventricular hypertrophy, Corneal opacity, Elevated circulating creatine kinase con... OMIM:613153
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:2902
Isotretinoin-Like Syndrome
Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Aortic valve stenosis, Hypocalcemia, Abno... ORPHA:2306
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Transient hypophosphatemia, Developmental cataract, Hypocalcemia OMIM:127000
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Mitral valve prolapse, Decreased corneal thickne... ORPHA:90354
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Hypoplastic left he... ORPHA:3426
Congenital Primary Aphakia
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cornea morphology,... ORPHA:411634
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Pearson Syndrome
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal stromal edema, Reti... ORPHA:699
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Hyperbilirubinemia, Abnormal heart morphology, Eosinophilia, He... ORPHA:400
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Astigmatism, He... OMIM:617713
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Cataract, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Scheie Syndrome
Aortic valve stenosis, Corneal opacity OMIM:607016
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly ORPHA:61
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract OMIM:617183
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosinophilia, H... ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... ORPHA:37042
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Hypereosinophilia, Interstitial cardiac fibrosis, Cognitive impairment, Elevated circulating crea... ORPHA:801
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
Pseudohypoparathyroidism, Type Ia
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Cognitive impairment, Mental deterioration OMIM:618476
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Hypoproteinemia, Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:235255
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Myocarditis, Eosinophilia ORPHA:139402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism OMIM:152950
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Pseudohypoparathyroidism Type 1C
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... ORPHA:79444
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:585
Incontinentia Pigmenti
Cognitive impairment, Cataract, Corneal opacity, Eosinophilia, Keratitis ORPHA:464
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... ORPHA:183
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Cataract, Corneal opacity ORPHA:1867
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Hepatosplenomegaly, Hypoproteinemia, Hepatomegaly, Hypocalcemia, Splen... ORPHA:1655
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Netherton Syndrome
Hypereosinophilia OMIM:256500
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbum... OMIM:618183
Velocardiofacial Syndrome
Hypocalcemia, Tetralogy of Fallot, Posterior embryotoxon, Ventricular septal defect OMIM:192430
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Band keratopathy, H... ORPHA:79443
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly, Abnormal heart morpho... ORPHA:93399
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Left ventricular hypertrophy, Cardiomyopathy ORPHA:746
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus OMIM:108145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Double outlet right ventricle, Ventricular septal defect, Elevated circulating creati... OMIM:301056
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Cartilage-Hair Hypoplasia
Anemia, Cognitive impairment, Abnormal cardiac septum morphology, Hepatomegaly, Hypocalcemia, Neu... ORPHA:175
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Aortic valve calcification, Hepatomegaly, Cardiomega... OMIM:231005
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Dilated cardiomyopathy, Dementia, Hepatosplenomegaly, Myocardial eosinophil... ORPHA:3260
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Pancytopenia, Hepatosplenomegaly ORPHA:309288
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Anemia, Hypercalcemia ORPHA:436
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl... OMIM:274000
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... OMIM:242150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Microcytic anemia ORPHA:293967
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... ORPHA:508533
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Scheie Syndrome
Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:93474
Tangier Disease
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opaci... ORPHA:31150
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal opacity ORPHA:496790
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia ORPHA:73224
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Incontinentia Pigmenti
Leukocytosis, Keratitis, Cataract, Eosinophilia OMIM:308300
Opacification of the corneal stroma, Conjunctival telangiectasia, Visceromegaly, Hepatosplenomegaly OMIM:256540
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Corneal opacity, Hyperlipidemia, Bone marrow hypocellularity, Decreased prop... ORPHA:1830
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Zellweger Syndrome
Brushfield spots, Cognitive impairment, Posterior embryotoxon, Ventricular septal defect, Catarac... ORPHA:912
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Splenomegaly, Corneal opacity, Hepatomegaly OMIM:272200
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Congenital Sialidosis Type 2
Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opacity, Hepatomegaly, Abnormal hea... ORPHA:93400
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia, Progres... ORPHA:251004
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly OMIM:239200
Alveolar Echinococcosis
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... ORPHA:284
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Eosinophilia, Mental deterioration ORPHA:449427
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count, Elevated circulating C-reactive protei... OMIM:619632
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thromboc... ORPHA:544482
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Posterior embryotoxon, Ventricular septal defect, Truncus arteriosus, A... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, Thrombocytopenia, Hy... ORPHA:163979
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, ... OMIM:619991
Hypereosinophilia ORPHA:74
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... OMIM:618052
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Cardiomegaly, Corneal opacity, Hepatomegaly ORPHA:349
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea ORPHA:1806
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea OMIM:615145
Hurler Syndrome
Cardiomyopathy, Hepatosplenomegaly, Corneal opacity, Hepatomegaly, Progressive neurologic deterio... OMIM:607014
Hennekam Syndrome
Pericardial effusion, Hypocalcemia, Splenomegaly, Lymphopenia ORPHA:2136
Gm1 Gangliosidosis
Cognitive impairment, Ventricular septal defect, Hepatosplenomegaly, Corneal opacity, Abnormal he... ORPHA:354
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity, Hepatomegaly OMIM:607015
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Wilson Disease
Anemia, Kayser-Fleischer ring, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:905
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Atrial... ORPHA:96125
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Abnormal pulmonary valve morphology, Hepatomegaly, Hypocalcemia, Spleno... ORPHA:667
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Lowry-Maclean Syndrome
Atrioventricular canal defect, Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Cognitive impairment, Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Abscess ORPHA:228123
Mucopolysaccharidosis Type 6
Cognitive impairment, Opacification of the corneal stroma, Abnormal heart valve morphology, Splen... ORPHA:583
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Sclerocornea, Microcornea ORPHA:139471
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Microcornea, Iris coloboma, Cataract, Corneal... ORPHA:899
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Mucopolysaccharidosis Type 4
Cognitive impairment, Abnormal heart valve morphology, Corneal opacity ORPHA:582
Leukopenia, Abnormal conjunctiva morphology, Anemia, Hemolytic anemia, Keratoconjunctivitis sicca... ORPHA:797
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic tetany, Developmental cataract, Hypocalcemic seizures ORPHA:93325
Fabry Disease
Anemia, Abnormal circulating lipid concentration, Cognitive impairment, Abnormal aortic valve mor... ORPHA:324
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... ORPHA:137596
Craniofacioskeletal Syndrome
Hypocalcemia, Ventricular septal defect, Atrial septal defect OMIM:300712
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Abnormal heart morphology, Hypocalcemic seizures ORPHA:2237
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Gitelman Syndrome
Pericardial effusion, Hypokalemia, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hypomag... ORPHA:358
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Hyponatremia ORPHA:1764
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Truncus arteriosus, Ventricular septal d... OMIM:188400
Alagille Syndrome
Abnormal pupil morphology, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Corneal... ORPHA:52
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Farber Disease
Abnormal conjunctiva morphology, Anemia, Opacification of the corneal stroma, Hepatosplenomegaly,... ORPHA:333
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Keratoconus, Pulmo... ORPHA:3071
Thymic Aplasia
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... ORPHA:83471
Pseudo-Torch Syndrome 1
Patent foramen ovale, Opacification of the corneal stroma, Cataract, Hepatomegaly, Thrombocytopen... OMIM:251290
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:253220
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Abnormal circulatin... ORPHA:425
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Keratoconus ORPHA:542306
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... OMIM:256800
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Posterior embryotoxon, Ventricular septal defect, Ocular anterior segment d... OMIM:612582
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Hypoplasia of the thymus, Elevated circulating long chain fatty acid concentrat... OMIM:214110
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Mosaic Trisomy 9
Asplenia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Corneal opacity, Abnorma... ORPHA:99776
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Anterior chamber synechiae, Opacification of the corneal stroma, Micro... OMIM:601499
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Dementia, Cataract, Corneal o... ORPHA:581
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Ocular albinism, Iris hypopigmentation, Cataract, Corneal opacity ORPHA:2719
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Igg4-Related Ophthalmic Disease
Keratitis, Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449563
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Pancytopenia, Lymphopenia, Astigmatism, Thrombocytopenia, Opa... OMIM:242900
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma, Corneal opacity, Hepatomegaly OMIM:253010
Warburg-Cinotti Syndrome
Sterile abscess, Limbal stem cell deficiency, Symblepharon, Corneal neovascularization, Decreased... OMIM:618175
3Q29 Microduplication Syndrome
Ventricular septal defect, Aniridia, Iris coloboma, Cataract, Sclerocornea ORPHA:251038
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Ventricular septal defect, Hypoplasia of the iris, Limbal dermoid, A... OMIM:613001
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Blue irides, Hyperphosphatemia ORPHA:280651
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Hypercalcemia, Developmental cataract OMIM:171300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Ventricular septal defect, Sclerocornea ORPHA:77298
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Charge Syndrome
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Lymphope... OMIM:214800
Mucopolysaccharidosis Type 1
Abnormal aortic valve morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, C... ORPHA:579
Hurler Syndrome
Endocardial fibroelastosis, Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splen... ORPHA:93473
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Focal Dermal Hypoplasia
Cognitive impairment, Ventricular septal defect, Abnormal cardiac septum morphology, Hypoplasia o... ORPHA:2092
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis OMIM:228100
Hepatocellular Carcinoma
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hepatomegal... ORPHA:88673
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Cognitive impairment OMIM:601853
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hypocalcemia, Hepatomegaly OMIM:218330
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Cognitive impairment, Ventricular septal defect, Cornea... ORPHA:488632
Mucopolysaccharidosis Type 2
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal... ORPHA:580
Wilson Disease
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... OMIM:277900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Atrial septal defect, Astigmatism, Hypercalcemia, Abnormal heart morp... ORPHA:369837
Wiskott-Aldrich Syndrome
Conjunctivitis, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morpholog... ORPHA:906
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Stromme Syndrome
Microcornea, Iris coloboma, Peters anomaly, Cataract, Accessory spleen, Sclerocornea OMIM:243605
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Histiocytoid Cardiomyopathy
Megalocornea, Ventricular septal defect, Corneal opacity, Hepatomegaly, Congenital aphakia, Cardi... ORPHA:137675
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ventricular septal de... OMIM:619503
Ocular Cystinosis
Corneal crystals ORPHA:411641
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters a... OMIM:236670
Gaucher Disease
Abnormal pericardium morphology, Mitral valve calcification, Anemia, Abnormal heart valve morphol... ORPHA:355
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Enlarged kidney, Pericarditis, Elevated circulating C-re... ORPHA:449395
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... ORPHA:2363
Multiple Myeloma
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly ORPHA:29073
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Carpenter Syndrome 1
Ventricular septal defect, Polysplenia, Atrial septal defect, Microcornea, Opacification of the c... OMIM:201000
Mucopolysaccharidosis Type 2, Severe Form
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Hepatosp... ORPHA:217085
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... ORPHA:95409
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Mucopolysaccharidosis Type 2, Attenuated Form
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Hepatosp... ORPHA:217093
Fryns Syndrome
Tetralogy of Fallot, Corneal opacity, Abnormal cardiac septum morphology ORPHA:2059
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Arterial Tortuosity Syndrome
Aortic valve stenosis, Astigmatism, Keratoconus, Ventricular hypertrophy OMIM:208050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Tetralogy of Fallot, Corneal opacity, Acute l... ORPHA:3474
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Arterial Tortuosity Syndrome
Keratoglobus, Myocarditis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Keratoconus, Abno... ORPHA:3342
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Mitral valve prolapse, Peripheral opacification of the cornea OMIM:259600
Infantile Nephropathic Cystinosis
Cognitive impairment, Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concent... ORPHA:411629
Anisopoikilocytosis, Opacification of the corneal stroma, Microcornea, Cataract, Abnormal platele... ORPHA:46059
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Iris coloboma, Pete... OMIM:309801
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Astigmatism, Cataract, Corneal opacity ORPHA:309282
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Corneal opacity, Hypoalbuminemia ORPHA:79396
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:253200
De Barsy Syndrome
Cataract, Corneal opacity, Ventricular septal defect ORPHA:2962
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Acute lymphoblastic leukemia, Atrial septal defect, Cataract, Cornea... ORPHA:1052