Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Herc1em3(IMPC)Wtsi HOM   Early adult 1.64×10-07
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
abnormal retina morphology Herc1em3(IMPC)Wtsi HOM Early adult 7.45×10-06
decreased lean body mass Herc1em3(IMPC)Wtsi HOM Early adult 1.87×10-12
increased circulating alkaline phosphatase level Herc1em3(IMPC)Wtsi HOM Early adult 1.87×10-06
increased circulating chloride level Herc1em3(IMPC)Wtsi HOM Early adult 1.11×10-19
decreased bone mineral density Herc1em3(IMPC)Wtsi HOM Early adult 8.14×10-10
increased red blood cell distribution width Herc1em3(IMPC)Wtsi HOM Early adult 5.02×10-10
male infertility Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased total body fat amount Herc1em3(IMPC)Wtsi HOM Early adult 1.33×10-15
increased fasting circulating glucose level Herc1em3(IMPC)Wtsi HOM   Early adult 7.63×10-05
increased eosinophil cell number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased circulating insulin level Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased mean platelet volume Herc1em3(IMPC)Wtsi HOM   Early adult 1.51×10-09
abnormal auditory brainstem response Herc1em3(IMPC)Wtsi HOM   Early adult 1.31×10-06
abnormal lens morphology Herc1em2(IMPC)Wtsi HOM Early adult 9.78×10-08
increased Ly6C high monocyte number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
increased circulating amylase level Herc1em3(IMPC)Wtsi HOM Early adult 3.54×10-13
increased Ly6C low monocyte number Herc1em3(IMPC)Wtsi HOM Early adult 0.00
cataract Herc1em2(IMPC)Wtsi HOM Early adult 9.78×10-08
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 monocyte cell 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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

DSS Histology

Images

16 Images

X-ray

XRay Images Forepaw

41 Images

Eye Morphology

Images Ophthalmoscopy

21 Images

X-ray

XRay Images Skull Lateral Orientation

42 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

40 Images

Anti-nuclear antibody assay

Images

10 Images

Eye Morphology

Images Slit Lamp

6 Images

Ear epidermis immunophenotyping

Images

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
phenotypes
Matching phenotypes Source
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Limitation of joint mobility, Low-set, posteriorly rotated ears, Slender build, Large for gestati... ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Cerebellar atrophy, Tall stature, Gait ataxia, Disproportionate tall s... OMIM:617011

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 7
Developmental cataract OMIM:115660
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
X-Linked Retinoschisis
Cataract ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract 47
Cataract, Microcornea OMIM:612018
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormality of the au... ORPHA:79299
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Galactosemia Ii
Cataract OMIM:230200
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Galactosemia Iv
Cataract OMIM:618881
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Dysmetria, P... ORPHA:284332
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine... OMIM:155100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Cinca Syndrome
Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Enamel hypomineralization, Iron deficiency anemia, ... ORPHA:494444
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Spinocerebellar Ataxia 40
Broad-based gait, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dysmetria, Tremor, Atax... OMIM:616053
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Gait d... OMIM:614860
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Late-Onset Isolated Acth Deficiency
Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Graves disea... ORPHA:199299
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Ataxia, Sensory, 1, Autosomal Dominant
Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Gait disturbance... OMIM:608984
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Facial palsy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:253600
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Nathalie Syndrome
Cataract OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Spinocerebellar Ataxia Type 40
Broad-based gait, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dysmetria, Unsteady gai... ORPHA:423275
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Myh9-Related Disease
Giant platelets, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutrophil inclus... ORPHA:182050
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, EEG with burst suppression, Hyperglycinemia, Hypsarrhythmia, Thrombo... OMIM:620423
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... OMIM:616033
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... OMIM:619644
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Thrombocytosis, Leukocytosis, Hypocalcemia, Hyperuricemia, Ele... ORPHA:94093
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Asymptomatic hyperammonemia, Fasting hyperinsulinem... ORPHA:35878
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili... OMIM:304790
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Dysequilibrium Syndrome
Cataract ORPHA:1766
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 88
Eosinophilia OMIM:619630
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Umbilical hernia, Recurrent otitis media, Hyposegmentation of... OMIM:169400
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... ORPHA:2070
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Sensori... ORPHA:79237
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic ner... ORPHA:83601
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Roifman Syndrome
Recurrent otitis media, Hepatosplenomegaly, Hip contracture, Hypogonadotropic hypogonadism, Eosin... ORPHA:353298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Eosinophilic Fasciitis
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Craniosynostosis, Eosinophilia, Joint contracture of the hand OMIM:618523
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Adrenal insufficiency, Decreased body we... OMIM:617053
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Addison Disease
Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Hyperkal... ORPHA:85138
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Retinitis Pigmentosa 40
Cataract OMIM:613801
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei... ORPHA:1930
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71526
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormality of retinal pigmentatio... ORPHA:3085
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Bone cyst... ORPHA:528
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
Aniridia 3
Cataract, Aniridia OMIM:617142
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Hypothyr... OMIM:615952
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Alg8-Cdg
Low-set ears, Optic atrophy, Failure to thrive, Abnormality of subcutaneous fat tissue, Retinopat... ORPHA:79325
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro... ORPHA:391673
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Hearing impairment, Umbilical hernia, Thrombocytopenia, Overfolded helix, ... OMIM:620475
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept... ORPHA:98849
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Osteoporosis, Eosinophilia OMIM:620532
Hemochromatosis, Type 4
Impotence, Increased circulating ferritin concentration, Glucose intolerance, Osteoarthritis, Ane... OMIM:606069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Recurrent otitis media, Osteomy... OMIM:619381
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Roifman Syndrome
Recurrent otitis media, Splenomegaly, Hip contracture, Eosinophilia, Retinal dystrophy OMIM:616651
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating... ORPHA:95409
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Hypo... ORPHA:39041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hyperkalemia, Fa... ORPHA:90791
Adenohypophysitis
Increased circulating prolactin concentration, Sensorineural hearing impairment, Decreased serum ... ORPHA:95512
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Failure to thrive, Hypernatremia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia OMIM:125800
Sheehan Syndrome
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Obesi... ORPHA:91355
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer bodies, Eryth... OMIM:301310
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... ORPHA:95513
Wells Syndrome
Cellulitis, Eosinophilia ORPHA:901
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intolerance, Obesit... ORPHA:369873
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Osteopenia, Giant platelets, Conductive hearing impairment, Failure to thrive in in... OMIM:611209
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly,... OMIM:612541
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Hearing impairment, Abnormal circulating porphyrin concentration, Hypo... ORPHA:100924
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, R... ORPHA:293978
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... OMIM:620565
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... OMIM:615926
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... OMIM:214700
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:617872
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hypophosphatem... ORPHA:263455
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Kimura Disease
Eosinophilia ORPHA:482
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow ... OMIM:248370
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy... ORPHA:556037
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circula... OMIM:617388
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva... ORPHA:247353
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Cataract 48
Cataract OMIM:618415
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy... ORPHA:556030
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circulating prol... ORPHA:95613
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Takenouchi-Kosaki Syndrome
Low-set ears, Optic atrophy, Inguinal hernia, Sensorineural hearing impairment, Thrombocytopenia,... OMIM:616737
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia, Reduced C-peptide level, Flexion contrac... OMIM:618856
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Conductiv... ORPHA:443811
Trichohepatoenteric Syndrome 1
Low-set ears, Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fail... OMIM:222470
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Sensorineural he... ORPHA:79324
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Chron... ORPHA:2314
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Recurrent otitis media, Osteomyelitis, Joint hypermobility, Eosinophilia, Ster... OMIM:618282
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis OMIM:604273
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Absc... ORPHA:810
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Arthritis, Anemia, Erec... ORPHA:3452
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive OMIM:610247
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Hyponatremia, Hypoglycemia OMIM:608688
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... ORPHA:331206
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia ORPHA:223
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Elevated circu... OMIM:613327
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, Otitis medi... ORPHA:169160
Congenital Varicella Syndrome
Cataract ORPHA:291
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Cone/cone-rod dystrophy, Se... OMIM:203800
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Decreased fertility, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abno... ORPHA:90794
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy... OMIM:124900
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... ORPHA:231222
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased adipose t... OMIM:151660
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:289548
Lipodystrophy, Congenital Generalized, Type 2
Macrotia, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:269700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F... ORPHA:168558
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Immunodeficiency 23
Conductive hearing impairment, Failure to thrive, Lymphopenia, Abscess, Sensorineural hearing imp... OMIM:615816
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight loss ORPHA:449400
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia, Weight loss, Bone cyst ORPHA:400
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Failure to thrive, Umbilical hernia, Hy... ORPHA:99886
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased... OMIM:203400
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Osteomyelitis, Abnormal circulating aldosterone, Glucocortocoid-ins... ORPHA:171876
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Polycythemia, Hearing impair... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Hereditary Folate Malabsorption
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Morm Syndrome
Cataract ORPHA:75858
Renal Hypoplasia, Bilateral
Glycosuria, Failure to thrive, Hyponatremia, Anemia, Hyperkalemia, Small for gestational age ORPHA:97362
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti... ORPHA:79277
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... ORPHA:911
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Hypothyroidism, Thrombocyto... ORPHA:84064
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Inguinal hernia, Femoral hernia, Thickened helices, Posteriorly r... ORPHA:2849
Aspergillosis
Osteomyelitis, Eosinophilia, Neutropenia, Vitritis ORPHA:1163
Intellectual Developmental Disorder, Autosomal Dominant 70
Failure to thrive, Hearing impairment, Hyponatremia, Retinal detachment, Retinal telangiectasia, ... OMIM:620157
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hypothyroidism, Failure to thrive OMIM:618999
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Increased circulating free fatty acid level, Decreased circulating carnit... ORPHA:71212
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... OMIM:608600
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Hyponatremia, EEG with focal epileptiform discharges, Abnor... ORPHA:163921
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Retinitis Pigmentosa 9
Cataract OMIM:180104
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Retinitis Pigmentosa
Optic atrophy, Conductive hearing impairment, Hypogonadism, Hyperinsulinemia, Attenuation of reti... ORPHA:791
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Sensorineural hearing impairment, Hypoka... OMIM:613090
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased c... OMIM:618838
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 1
Macrotia, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Reduced subcu... OMIM:608594
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus ORPHA:178029
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment ORPHA:3225
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:264350
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A... ORPHA:1215
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, EEG with burst suppression, Abnormal circulating arginine concen... ORPHA:79096
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Failure to t... OMIM:601678
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... ORPHA:96253
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... OMIM:618278
Classic Galactosemia
Hypoglycemia, Premature ovarian insufficiency, Decreased fertility in females, Abnormal erythrocy... ORPHA:79239
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...