Gene Summary

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
tbl,  2810449H11Rik,  D130015N03Rik

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
abnormal auditory brainstem response Herc1em3(IMPC)Wtsi HOM   Early adult 1.31×10-06
increased fasting circulating glucose level Herc1em3(IMPC)Wtsi HOM   Early adult 7.63×10-05
increased circulating insulin level Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased circulating amylase level Herc1em3(IMPC)Wtsi HOM Early adult 3.54×10-13
increased mean platelet volume Herc1em3(IMPC)Wtsi HOM   Early adult 1.51×10-09
increased circulating chloride level Herc1em3(IMPC)Wtsi HOM Early adult 1.11×10-19
abnormal lens morphology Herc1em2(IMPC)Wtsi HOM Early adult 9.78×10-08
increased circulating alkaline phosphatase level Herc1em3(IMPC)Wtsi HOM Early adult 1.87×10-06
decreased bone mineral density Herc1em3(IMPC)Wtsi HOM Early adult 8.14×10-10
male infertility Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased eosinophil cell number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
decreased circulating glucose level Herc1em3(IMPC)Wtsi HOM   Early adult 1.64×10-07
increased Ly6C low monocyte number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Herc1em3(IMPC)Wtsi HOM Early adult 5.02×10-10
increased circulating sodium level Herc1em3(IMPC)Wtsi HOM Early adult 6.14×10-14
impaired glucose tolerance Herc1em3(IMPC)Wtsi HOM   Early adult 3.59×10-06
cataract Herc1em2(IMPC)Wtsi HOM Early adult 9.78×10-08
abnormal retina morphology Herc1em3(IMPC)Wtsi HOM Early adult 7.45×10-06
increased monocyte cell number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
decreased lean body mass Herc1em3(IMPC)Wtsi HOM Early adult 1.87×10-12
decreased bone mineral content Herc1em3(IMPC)Wtsi HOM Early adult 3.80×10-12
increased leukocyte cell number Herc1em3(IMPC)Wtsi HOM Early adult 7.35×10-06
increased total body fat amount Herc1em3(IMPC)Wtsi HOM Early adult 1.44×10-15
increased Ly6C high monocyte number Herc1em3(IMPC)Wtsi HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Lateral Orientation

42 Images


XRay Images Forepaw

41 Images


XRay Images Whole Body Lateral Orientation

40 Images

Eye Morphology

Images Ophthalmoscopy

21 Images


XRay Images Whole Body Dorso Ventral

42 Images


XRay Images Skull Dorso Ventral Orientation

40 Images

DSS Histology


16 Images

Anti-nuclear antibody assay


10 Images

Eye Morphology

Images Slit Lamp

6 Images

Ear epidermis immunophenotyping


36 Images

Legacy Phenotype Associated Images

View all 242 images

View all 27 images

View all 14 images

View all 13 images

Human diseases caused by Herc1 mutations

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

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

The table below shows human diseases associated to Herc1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Neonatal hypoglycemia, Slender build, Joint laxity, Low-set, posterior... ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Cerebellar atrophy, Tall stature, Cerebral cortical atrophy OMIM:617011

The table below shows human diseases predicted to be associated to Herc1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 3
Cataract OMIM:617142
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 7
Developmental cataract OMIM:115660
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 47
Microcornea, Cataract OMIM:612018
Aniridia 2
Cataract, Aniridia OMIM:617141
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Hyperinsulinism Due To Glucokinase Deficiency
Abnormality of the autonomic nervous system, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hy... ORPHA:79299
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Galactosemia Ii
Cataract OMIM:230200
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
X-Linked Retinoschisis
Cataract ORPHA:792
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Short stature, Dysdiadochokine... OMIM:616291
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Progressive cerebella... ORPHA:284332
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Decreased circulating free fatty acid level, Inc... ORPHA:324575
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Leukocytosis, Delayed femoral head ossification, Limited ... ORPHA:168621
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Menorrhagia, Neutr... OMIM:155100
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Infertility, Hyperinsulinemia, Loss of gluteal subcut... ORPHA:280356
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia, Hypoalbu... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic a... ORPHA:529808
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia, Facial palsy, Flexion contracture OMIM:253600
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Adrenocorticotropin deficient adren... ORPHA:199299
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Unsteady gait, Dysdiadochokinesis, Broad-ba... OMIM:616053
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait disturbance, Lim... ORPHA:363710
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Primary amenorrhea, Joint laxity, Osteoporosis, Dorsocervical fat pad, Delayed... OMIM:616033
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Unsteady gait, Gait ataxia, Dysdiadochokine... ORPHA:423275
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Myh9-Related Disease
Sensorineural hearing impairment, Giant platelets, Menorrhagia, Neutrophil inclusion bodies, Cong... ORPHA:182050
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Fechtner syndrome
Leukocyte inclusion bodies, High-frequency sensorineural hearing impairment, Menorrhagia, Giant p... OMIM:153640
Macrothrombocytopenia and progressive sensorineural deafness
Progressive sensorineural hearing impairment, Giant platelets, Thrombocytopenia, Macrothrombocyto... OMIM:600208
Nathalie Syndrome
Cataract OMIM:255990
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Eosinophilia, Lymphopenia, Arthritis ORPHA:2582
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Platelet Glycoprotein Iv Deficiency
Abnormality of the endocrine system, Giant platelets, Thrombocytopenia OMIM:608404
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Primary amenorrhea, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutan... OMIM:604367
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Cellulitis, Monocytosis, Leukemia, Osteopenia, Acute myeloid leukemia, Neutropenia,... ORPHA:486
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased propo... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Elevated circulating C-reactive ... OMIM:619644
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity, Adrenocortical adenoma OMIM:248100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Failure to thrive, Diabetes mellitus, Hypomagnes... OMIM:613845
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Fasting hypoglycemia, Inc... ORPHA:276575
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased propo... ORPHA:179494
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervou... ORPHA:94093
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Decreased serum iron, Anisocytosis, Retinal atrophy, Anemia, ... OMIM:616959
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract 11, Multiple Types
Cataract OMIM:610623
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive,... OMIM:603554
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cellulitis, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Reactive hypoglycemia, Fasting hyperinsulinemia, Hy... ORPHA:35878
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Dysequilibrium Syndrome
Cataract ORPHA:1766
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Retinitis Pigmentosa 84
Cataract OMIM:618220
Immunodeficiency 7
Failure to thrive, Hypereosinophilia OMIM:615387
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Bernard-Soulier Syndrome
Macrothrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggrega... OMIM:231200
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Abnormal autonomic nervous sys... ORPHA:83601
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous abscess, Joint hypermo... OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Arthritis, Coombs-positive hemolytic anemia, Autoimmune thrombocyto... OMIM:304790
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Abnormality of retinal pigmentation, Abnormal retina... ORPHA:791
Glycosuria, Retinopathy, Large for gestational age, Neonatal hypoglycemia, Obesity, Overweight, I... ORPHA:552
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Congenital sensorineural hearing impairment OMIM:606528
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Failure to thrive, Hyposegmentation of ... OMIM:169400
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucose tolerance, Fastin... ORPHA:2298
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin ... ORPHA:231226
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Neutropenia, Hyperglycemia, Thrombocytopen... ORPHA:391673
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Eosinophilic Fasciitis
Eosinophilia, Cellulitis, Arthritis, Abnormal eosinophil morphology, Fasciitis, Weight loss ORPHA:3165
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Delayed proximal femoral epiphys... ORPHA:353298
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hypoglycemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Addison Disease
Hypoglycemia, Primary adrenal insufficiency, Orthostatic hypotension, Hashimoto thyroiditis, Thym... ORPHA:85138
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Halothane Hepatitis
Eosinophilia, Obesity OMIM:234350
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hypoglycemia, Leukopenia, Hyponatremia, Decreased body... OMIM:617053
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Herpes Simplex Virus Encephalitis
EEG abnormality, Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protei... ORPHA:1930
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71526
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Lymphopenia, Hypop... OMIM:612541
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hype... ORPHA:528
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Wolcott-Rallison Syndrome
Hypothyroidism, Decreased body weight, Hyponatremia, Central hypothyroidism, Neutropenia, Iron de... ORPHA:1667
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Estrogen Resistance
Osteopenia, Primary amenorrhea, Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance OMIM:615363
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Abnormality of retinal pigmentation, Sensorineural hearing impairment,... ORPHA:3085
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Intention tremor, Gait ataxia, ... OMIM:117360
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin saturation, An... OMIM:606069
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Craniosynostosis, Joint contracture of the hand OMIM:618523
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinopathy, Hyponatremia, Low-set ears, Small for gestational age, Anemia, Failure to thrive, Ab... ORPHA:79325
Retinitis Pigmentosa 40
Cataract OMIM:613801
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Hyponatremia, Recurrent hypogly... ORPHA:293978
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Gout, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia... OMIM:610947
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Joint hypermobility OMIM:618282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissue, Decreased a... OMIM:608612
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Joint stiffness, Increased ... OMIM:248370
Sheehan Syndrome
Hypoglycemia, Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum... ORPHA:91355
Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, In... ORPHA:95512
Mandibuloacral Dysplasia
Reduced intrathoracic adipose tissue, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia,... ORPHA:2457
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:95409
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia OMIM:618406
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased... OMIM:610600
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, An... ORPHA:100924
Cataract 24
Anterior polar cataract OMIM:601202
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Hyponatremia, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive OMIM:125800
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:2902
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Roifman Syndrome
Eosinophilia, Retinal dystrophy, Splenomegaly, Hip contracture OMIM:616651
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Splenomegaly, Anemia,... ORPHA:39041
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Neonatal hypoglycemia, In... ORPHA:79644
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Miscarriage, Sphe... ORPHA:71275
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Glucose intolerance, Pos... ORPHA:369873
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hyponatremia, Oligomenorrhea, Hypopituitarism, Hypergon... ORPHA:95613
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Kimura Disease
Eosinophilia ORPHA:482
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Webb-Dattani Syndrome
Hypernatremia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituita... OMIM:615926
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Insulin resistance, Hyperinsulinemia, Osteopenia, Splenomegal... OMIM:613327
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Generalized lipodyst... ORPHA:363400
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Reduced C-peptide level, Hyperglycemia, Type I diabetes mellitus, Hypsarrhyt... OMIM:618856
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Arthritis, Decreased proportion of naive T cells, Splenomegaly, Elevated circu... OMIM:619381
Schistocytosis, Hepatosplenomegaly, Conductive hearing impairment, Osteoporosis, Acanthocytosis, ... OMIM:607330
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556037
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet volume OMIM:153670
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Erectile dysfunction, Splenomegaly, Anemia, Cac... ORPHA:3452
Takenouchi-Kosaki Syndrome
Low-set ears, Sensorineural hearing impairment, Inguinal hernia, Posteriorly rotated ears, Campto... OMIM:616737
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Failure to thrive, Hypoglycemia OMIM:610090
Trichohepatoenteric Syndrome 1
Low-set ears, Small for gestational age, Thrombocytosis, Hypermethioninemia, Microtia, Abnormalit... OMIM:222470
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556030
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Fasting hyperinsulinemia, Osteopenia OMIM:619489
Hypoglycemia, Leukocytosis, Hyponatremia, Failure to thrive in infancy, Arthritis, Abnormal blood... ORPHA:810
Immunodeficiency 49
Eosinophilia, Umbilical hernia, Lymphopenia, Posteriorly rotated ears OMIM:617237
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Hyponatremia, Decreased circu... ORPHA:361
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Hearing impairment, T... ORPHA:181393
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Cataract 2, Multiple Types
Microcornea, Developmental cataract, Nuclear cataract OMIM:604307
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive ORPHA:223
Congenital Varicella Syndrome
Cataract ORPHA:291
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... ORPHA:199296
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Abnormal pinna morphology, Hyponatremia, Recurrent hypoglycemia, Sensorineural hearing impairment... ORPHA:79324
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Decreased eosinophil count OMIM:131430
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Increased circulating prolactin concen... ORPHA:91354
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Orthostatic hypotension, Elevated circulating creatinine concentration, Hyperinsuli... ORPHA:230
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Increased circulating androgen concentration, Hyperactive renin-an... ORPHA:90794
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissu... OMIM:151660
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive OMIM:610247
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly... ORPHA:231222
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Retinitis Pigmentosa 4
Cataract OMIM:613731
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Osteoporosis, Elev... ORPHA:289548
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic h... OMIM:203800
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Hyponatre... ORPHA:168558
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Cellulitis, Craniosynostosis, Osteopenia, Recurrent fractures, Osteomyelitis, Joint... ORPHA:2314
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Peritoneal abscess, Bone cyst, Splenic cyst, Abscess, Weight loss ORPHA:400
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Osteopenia, Primary amenorrhea, Hyperinsulinemia, Ost... ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Syndromic Diarrhea
Hypothyroidism, Small for gestational age, Thrombocytosis, Splenomegaly, Abnormality of iron home... ORPHA:84064
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperactive ren... OMIM:177735
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Hypoargininemia, Abnormal circulating tyrosine concentration, Pyridoxine-responsive... ORPHA:79096
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating po... ORPHA:79277
Igg4-Related Aortitis
Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:449400
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperactive renin-angiotensin system... OMIM:214700
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating aldosterone ... OMIM:203400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive... ORPHA:169160
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Femoral hernia, Inguinal hernia, Posteriorly rotated ears, Thicke... ORPHA:2849
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Hyponatremia... OMIM:300200
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Failu... ORPHA:911
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hypothyroidism, Hepatosplenomegaly, Failure to thrive OMIM:618999
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Abnormal circulating aldosterone, Failure to thrive in infancy, Increased circulati... ORPHA:171876
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Immunodeficiency 23
Eosinophilia, Conductive hearing impairment, Sensorineural hearing impairment, Abscess, Neutropen... OMIM:615816
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Decreased plasma carniti... ORPHA:71212
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Morm Syndrome
Cataract ORPHA:75858
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemi... ORPHA:88673
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia, Hyponatremia ORPHA:449285
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Chronic hemolytic anemia, Hemo... OMIM:618278
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Posttransplant Acute Limbic Encephalitis
EEG with focal epileptiform discharges, Hyponatremia, Abnormal autonomic nervous system physiolog... ORPHA:163921
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment, Hyponatremia ORPHA:3225
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Decreased fertility in females, Decreased fertility, Hyperinsulinemia, Reduced int... OMIM:269700
Central Diabetes Insipidus
Weight loss, Failure to thrive, Hyponatremia, Diabetes insipidus ORPHA:178029
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Acerulo... OMIM:604290
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Sensorineural hearing impairment, Failure to thrive, Hy... OMIM:613090
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Neutropenia, Eosinophilia, Osteomyelitis, Vitritis ORPHA:1163
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive, Hyperactive renin-angiotensin system, Pseudohypoal... OMIM:264350
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Decreased fertility in females, Hyperinsulinemia, Reduced intraabdominal adipose t... OMIM:608594
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia, Hearing impairment ORPHA:67048
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Osteoporosis, Secondary amenorr... ORPHA:79239
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Low-set ears, Pancreatic islet-cell hyperplasia, Adipose ... OMIM:246200
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Cinca Syndrome
Pseudopapilledema, Leukocytosis, EEG abnormality, Sensorineural hearing impairment, Splenomegaly,... ORPHA:1451
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Porphyria Variegata
Hyponatremia, Abnormal autonomic nervous system physiology, Anemia, Scarring, Inappropriate antid... ORPHA:79473
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cushing Disease