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Gene: Rab19 MGI:103292

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Gene Summary

Name:
RAB19, member RAS oncogene family
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-09
decreased circulating calcium level Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.88×10-05
increased cornea thickness Rab19tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05
decreased large unstained cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.43×10-08
abnormal contextual conditioning behavior Rab19tm1b(EUCOMM)Hmgu HOM Early adult 5.41×10-05
corneal opacity Rab19tm1b(EUCOMM)Hmgu HOM Early adult 3.98×10-05
increased eosinophil cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.48×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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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
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly ORPHA:172
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Thrombocytopenia ORPHA:1980
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Galactosialidosis
Corneal opacity ORPHA:351
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Hepatomegaly ORPHA:100025
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Morquio Syndrome C
Corneal opacity OMIM:252300
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, 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
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Autoimmune Hypoparathyroidism
Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Mucolipidosis Type Iii
Abnormal heart valve morphology, Corneal opacity, Cognitive impairment, Abnormal aortic valve mor... ORPHA:577
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eosinophilia OMIM:618523
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Kimura Disease
Eosinophilia ORPHA:482
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment ORPHA:1532
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Brittle Cornea Syndrome 1
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... OMIM:229200
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Hepatomegaly ORPHA:79292
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Primary Intestinal Lymphangiectasia
Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca... ORPHA:90362
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly OMIM:616651
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy ORPHA:93476
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Hyperthreoninemia OMIM:204000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Conjunctivitis, Hypocalcemia, Neutropeni... ORPHA:47
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Mitral valve prolapse ORPHA:1563
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Splenomegaly, Aplasia/Hypopla... ORPHA:290
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Corneal opacity, Developmental cataract OMIM:618815
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... OMIM:602450
Wells Syndrome
Eosinophilia ORPHA:901
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Developmental cataract, Hypocalcemia OMIM:618440
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess OMIM:618282
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... OMIM:158310
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... ORPHA:31824
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly ORPHA:2123
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia ORPHA:281090
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... OMIM:245900
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Adamantinoma
Hypercalcemia ORPHA:55881
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Sialidosis Type 2
Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:87876
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Aspergillosis
Keratitis, Eosinophilia, Neutropenia ORPHA:1163
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Cataract, Corneal opacity, Elevated circulating creatine kinase con... OMIM:613153
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... ORPHA:2306
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Elevated cir... ORPHA:36234
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly ORPHA:309288
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Mitral valve prolapse, Keratoglobus, Decrea... ORPHA:90354
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Attention deficit hypera... OMIM:152950
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P... ORPHA:3426
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia ORPHA:293173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropeni... ORPHA:699
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Cystic Echinococcosis
Hepatomegaly, Eosinophilia, Abscess, Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst,... ORPHA:400
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Pseudohypoparathyroidism Type 1C
Calcinosis, Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic te... ORPHA:79444
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract OMIM:617183
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Scheie Syndrome
Aortic valve stenosis, Corneal opacity OMIM:607016
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly ORPHA:61
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop... ORPHA:3261
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cataract, Hyperphosphatemia, Cognitive impairment OMIM:103580
Pseudohypoparathyroidism Type 1A
Calcinosis, Cataract, Confusion, Band keratopathy, Hyperphosphatemia, Conjunctivitis, Hypocalcemi... ORPHA:79443
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hypocalcemia, Cognitive impairment OMIM:618476
Incontinentia Pigmenti
Cataract, Corneal opacity, Eosinophilia, Keratitis, Cognitive impairment, Attention deficit hyper... ORPHA:464
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia OMIM:235255
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Multiple Sulfatase Deficiency
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Rapid neurologic deterioration ORPHA:585
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... ORPHA:183
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... ORPHA:1655
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Abnormal heart morphology ORPHA:1867
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Velocardiofacial Syndrome
Ventricular septal defect, Posterior embryotoxon, Tetralogy of Fallot, Hypocalcemia OMIM:192430
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Abnormal heart morphology, Hepatosplenomegaly, Viscerome... ORPHA:93399
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated card... ORPHA:3260
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... OMIM:618183
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia ORPHA:746
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Corneal opacity, Elevated circulating creatine kinase concentration, Ventricular se... OMIM:301056
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia OMIM:212750
Netherton Syndrome
Hypereosinophilia OMIM:256500
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... ORPHA:508533
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cartilage-Hair Hypoplasia
Hepatomegaly, Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia, Cognitive impairm... ORPHA:175
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Ventricular septal defect, Thrombocytopenia, Leukocytosi... OMIM:274000
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Microcytic anemia ORPHA:293967
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal opacity ORPHA:496790
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... ORPHA:31150
Scheie Syndrome
Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:93474
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Igg4-Related Pachymeningitis
Mental deterioration, Confusion, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Incontinentia Pigmenti
Keratitis, Leukocytosis, Cataract, Eosinophilia OMIM:308300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... ORPHA:1830
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Zellweger Syndrome
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Brushfield spots, Cognitive i... ORPHA:912
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Liver Disease, Severe Congenital
Cardiomegaly, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Atria... OMIM:619991
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Multiple Sulfatase Deficiency
Splenomegaly, Rapid neurologic deterioration, Corneal opacity, Hepatomegaly OMIM:272200
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Congenital Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Abnormal hea... ORPHA:93400
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
22Q11.2 Deletion Syndrome
Cataract, Ventricular septal defect, Abnormal pulmonary valve morphology, Splenomegaly, Tetralogy... ORPHA:567
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Cystinosis
Hypokalemia, Corneal opacity, Hypophosphatemia ORPHA:213
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Progressive psychomotor deterioration, Increased blood urea nitrogen, Episodic hem... ORPHA:251004
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal spleen morphology, Anemia,... ORPHA:284
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopeni... ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalce... ORPHA:544482
Angiostrongyliasis
Hypereosinophilia ORPHA:74
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Atrial septal defe... ORPHA:163979
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ethylene Glycol Poisoning
Confusion, Hyperkalemia, Hypocalcemia ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Fucosidosis
Hepatomegaly, Corneal opacity, Cardiomegaly ORPHA:349
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Hennekam Syndrome
Pericardial effusion, Splenomegaly, Lymphopenia, Hypocalcemia ORPHA:2136
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity, Hepatomegaly OMIM:607015
Hurler Syndrome
Hepatomegaly, Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Hepatosplenome... OMIM:607014
Gm1 Gangliosidosis
Corneal opacity, Ventricular septal defect, Splenomegaly, Abnormal heart morphology, Hepatospleno... ORPHA:354
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
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
Wilson Disease
Hepatomegaly, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia ORPHA:905
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Atrioventricular canal defect, Corneal opacity ORPHA:2409
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, ... ORPHA:667
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
Digeorge Syndrome
Ventricular septal defect, Sclerocornea, Thrombocytopenia, Splenomegaly, Tetralogy of Fallot, Hyp... OMIM:188400
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Mucopolysaccharidosis Type 6
Cognitive impairment, Splenomegaly, Abnormal heart valve morphology, Opacification of the corneal... ORPHA:583
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Coccidioidomycosis
Pericarditis, Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Cognitive impairment ORPHA:228123
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Cataract, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increase... ORPHA:797
Fabry Disease
Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ... ORPHA:324
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Anemia ORPHA:93325
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Corneal opacity, Cognitive impairment ORPHA:582
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia OMIM:300712
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Alagille Syndrome
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morpholog... ORPHA:52
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... ORPHA:333
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Gitelman Syndrome
Pericardial effusion, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomag... ORPHA:358
Costello Syndrome
Keratoconus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... ORPHA:3071
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Splenomegaly, Opacification of the corneal stroma, Patent foramen ovale, ... OMIM:251290
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Tetralogy of Fallot, Axenfeld anomaly, Opacification of the corneal st... OMIM:612582
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Abnormal heart morp... OMIM:601499
Mosaic Trisomy 9
Ventricular septal defect, Corneal opacity, Dextrocardia, Abnormal heart valve morphology, Asplen... ORPHA:99776
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Cataract, Brushfield spots, Abnormal heart morphology, Hypoplasia of the thymus, Op... OMIM:214110
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Igg4-Related Ophthalmic Disease
Keratitis, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Progressive neurologic deterioration, Cardiomegaly, Sple... ORPHA:581
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Schimke Immunoosseous Dysplasia
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... OMIM:242900
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Aortic valve stenosis, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Corneal neovascularizatio... OMIM:618175
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Subvalvula... OMIM:613001
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Iris coloboma, Sclerocornea ORPHA:77298
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy OMIM:253220
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Charge Syndrome
Cataract, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic ... OMIM:214800
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Abnormal aortic valve morphology,... ORPHA:579
Mucopolysaccharidosis Type 2
Hepatomegaly, Short attention span, Corneal opacity, Abnormal heart valve morphology, Abnormal pu... ORPHA:580
Hurler Syndrome
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, End... ORPHA:93473
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia OMIM:218330
Focal Dermal Hypoplasia
Corneal opacity, Ventricular septal defect, Ectopia lentis, Hypoplasia of the iris, Abnormal card... ORPHA:2092
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Opacification of the corneal stroma OMIM:601853
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Astigmatism, Atrial septal defect... ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Corneal opacity, Cognitive impairment, Pulmonic stenosis, Abnormal cir... ORPHA:488632
Alpha-Mannosidosis, Infantile Form
Short attention span, Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly, Ast... ORPHA:309282
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... ORPHA:906
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circu... ORPHA:449395
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, ... OMIM:619503
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Megalocornea, Congenital ... ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Ocular Cystinosis
Corneal crystals ORPHA:411641
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve ... ORPHA:217093
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormal pericardium mor... ORPHA:355
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Arterial Tortuosity Syndrome
Keratoconus, Ventricular hypertrophy, Aortic valve stenosis, Astigmatism OMIM:208050
Carpenter Syndrome 1
Ventricular septal defect, Microcornea, Transposition of the great arteries, Polysplenia, Opacifi... OMIM:201000
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Arterial Tortuosity Syndrome
Keratoconus, Myocarditis, Dilated cardiomyopathy, Keratoglobus, Abnormal myocardium morphology, H... ORPHA:3342
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomega... ORPHA:217085
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Fryns Syndrome
Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot ORPHA:2059
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Dyggve-Melchior-Clausen Disease
Diminished ability to concentrate, Corneal opacity ORPHA:239
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse OMIM:259600
Chime Syndrome
Ventricular septal defect, Corneal opacity, Pulmonary valve atresia, Acute leukemia, Transpositio... ORPHA:3474
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, A... ORPHA:534
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Corneal opacity, Astigmatism, Attention deficit hyperactivity disorder... ORPHA:464311
Lathosterolosis
Hepatomegaly, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacifica... ORPHA:46059
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Peters anomaly, Atrial septa... OMIM:309801
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Abnormal cornea morphology, Hypokalemia, Cogn... ORPHA:411629
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Hypocalcemia, Attention deficit hyperactivity disorder OMIM:620330
De Barsy Syndrome
Ventricular septal defect, Cataract, Corneal opacity ORPHA:2962
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atrial sept... ORPHA:1052
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea, Hepatomegaly OMIM:230740
Gapo Syndrome
Keratoconus ORPHA:2067
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia, Anemia ORPHA:79396
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... OMIM:175780
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral stenosis OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea OMIM:300952
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular cataract, Aortic valve st... ORPHA:536471
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Cushing Disease
Leukocytosis, Dementia, Decreased eosinophil count, Memory impairment, Lymphopenia ORPHA:96253
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormality of the spleen, Splenomegal... ORPHA:2072
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Attention deficit hyperactivity disorder... ORPHA:636
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hyperalanine... OMIM:615273
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
3Mc Syndrome 3
Corneal opacity OMIM:248340
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Brushfield spots, Conjugated hyperbilirubinemi... OMIM:614866
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... OMIM:619472
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Atrial s... ORPHA:904
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Aortic valve stenosis, Astigmatism, Corneal opacity ORPHA:464306
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess ORPHA:289176
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Corneal opacity, Iris coloboma, Tricuspid valve prolapse ORPHA:2396
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac se... ORPHA:2556
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca, Attention deficit hy... ORPHA:495875
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Limb Body Wall Complex
Corneal opacity, Ventricular septal defect, Abnormal heart morphology, Lens subluxation, Atrial s... ORPHA:2369
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma OMIM:253000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Moebius Syndrome
Corneal opacity ORPHA:570
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Brushfield spots, Opacification of the corneal... OMIM:214100
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Oculoectodermal Syndrome
Atrial septal defect, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermo... OMIM:600268
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Situs inversus totalis, Microcornea, Aplasia/... ORPHA:564
Somatostatinoma
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Primary Sclerosing Cholangitis
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, ... ORPHA:171
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... OMIM:252500
Glucagonoma
Hepatomegaly, Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures, Hepatomegaly OMIM:612301
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Double inlet left ventricle, Atrial septal defect, Tetralogy of Fallot OMIM:619869
Kindler Epidermolysis Bullosa
Conjunctivitis, Anemia, Corneal opacity ORPHA:2908
Smith-Lemli-Opitz Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Elevated circulating 7-dehydrocholesterol conc... ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... ORPHA:2273
Proboscis Lateralis
Cataract, Ventricular septal defect, Corneal opacity, Microcornea, Iris coloboma ORPHA:141099
Peters Plus Syndrome
Cataract, Corneal opacity, Bicuspid pulmonary valve, Microcornea, Abnormal cardiac septum morphol... ORPHA:709
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy OMIM:608670
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma OMIM:251300
Microphthalmia, Syndromic 3
Cataract, Ventricular septal defect, Sclerocornea OMIM:206900
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Sclerocornea, Abnormal cardiac septum morphology, Atrial septal ... ORPHA:280
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Williams-Beuren Syndrome
Short attention span, Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Blue iride... OMIM:194050
Mosaic Trisomy 1
Ventricular septal defect, Opacification of the corneal stroma ORPHA:1692
Osteogenesis Imperfecta
Abnormal endocardium morphology, Corneal opacity, Thrombocytopenia, Mitral valve prolapse ORPHA:666
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Corneal opacity, Mitral stenosis, Aortic val... ORPHA:740
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Cognitive ... ORPHA:910
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Corneal opacity, Developmental cataract ORPHA:90348
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Dementia, Decreased eosinophil count, Memory impairment, Lymphopenia ORPHA:99889
Sotos Syndrome
Cataract, Ventricular septal defect, Hypercalcemia, Abnormal heart morphology, Acute lymphoblasti... ORPHA:821
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Hypercalcemia ORPHA:652
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypertriglyceridemia, Confusion, Congenital malformation of the left h... ORPHA:3455
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacific... OMIM:133540
Fraser Syndrome 1
Corneal opacity, Abnormal heart morphology OMIM:219000
Cockayne Syndrome A
Hepatomegaly, Cataract, Splenomegaly, Dementia, Opacification of the corneal stroma OMIM:216400
Dermatomyositis
Myocarditis, Pericarditis, Abnormal eosinophil morphology ORPHA:221
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal de... ORPHA:3472
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Patent f... OMIM:263650
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Ventricular septal defect, Opacification of the corn... OMIM:268300
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Polysplenia, Opacification of the corneal stroma OMIM:229850
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Anemia, Mitral valve prolapse OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal heart valve morphology, Abnormal pupil morphology, Mitral valve prolapse, H... ORPHA:286
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Atrial septal defect,... OMIM:308205
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Cardiomyopathy, Tetralogy of Fallot, Patent fo... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rab19

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab19.

No publications found that use IMPC mice or data for Rab19.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rab19tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rab19tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rab19tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rab19tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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