Gene Summary

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

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

40 Images


XRay Images Forepaw

41 Images


XRay Images Skull Dorso Ventral Orientation

40 Images


XRay Images Whole Body Dorso Ventral

42 Images

Eye Morphology

Images Ophthalmoscopy

21 Images

Eye Morphology

Images Slit Lamp

6 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
Slender build, Joint laxity, Neonatal hypoglycemia, Macrotia, Low-set, posteriorly rotated ears, ... ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Tall stature 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
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
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
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea OMIM:249300
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
Persistent pupillary membrane, Developmental cataract, Megalocornea 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
Cataract, Microcornea, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 47
Cataract, Microcornea OMIM:612018
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 42
Developmental cataract OMIM:115900
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 43
Subcapsular cataract OMIM:616279
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, 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
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Cerebellar atrophy, C... ORPHA:284332
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Cinca Syndrome
Progressive sensorineural hearing impairment, Leukocytosis, Papilledema, Hearing impairment, Elev... OMIM:607115
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cataract, Iris coloboma ORPHA:79326
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, ... OMIM:155100
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal... ORPHA:280356
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529799
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Flexion contracture, Facial palsy, Eosinophilia OMIM:253600
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Intention tremor, Broad-ba... OMIM:616053
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Weight loss, Hypercalcemia, Eosinophilia, Adren... ORPHA:199299
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Limb dysmetria, Truncal ataxia, Diffuse cerebellar atrophy, Gait dist... ORPHA:363710
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Intention tre... ORPHA:423275
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed thelarche, Primary amenorrhea,... OMIM:616033
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Sensorineural hearing impairment, Gi... ORPHA:182050
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Progressive sensorineural hearing impairment, Macrothrombocyto... OMIM:600208
Nathalie Syndrome
Cataract OMIM:255990
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system OMIM:608404
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane... ORPHA:486
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Leukopenia, Anemia, Hypomagnesemia, Failure to thr... OMIM:613845
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Eosinophilia, Obesity OMIM:248100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity OMIM:618090
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Action tremor, Ataxia, Brady... ORPHA:98762
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Lipodystrophy, Hyperuricemia, Insulin-resist... OMIM:604367
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic... OMIM:210250
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Poikilocytosis, Retinal atrophy, Elliptocytosis, Retinal... OMIM:616959
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Cataract 11, Multiple Types
Cataract OMIM:610623
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Dysequilibrium Syndrome
Cataract ORPHA:1766
Retinitis Pigmentosa 84
Cataract OMIM:618220
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Failure to thrive OMIM:615387
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hyponatremia, Abnormal autonomic nervous system physiology,... ORPHA:83601
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Throm... OMIM:304790
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Conductive hearing impairment, Atypical sc... ORPHA:791
Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Congenital sensorineural hearing impairment, Hyperinsulinemia, Hypoglycemia OMIM:606528
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Umbilical hernia,... OMIM:169400
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Recurrent fractures, Osteopenia, Eosinophilia OMIM:147060
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Abnormality of the pinna, Failure to thrive OMIM:610680
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Cataract ORPHA:79325
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Elevated circulating C-reactive protein conce... ORPHA:2070
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-gl... ORPHA:3008
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corp... ORPHA:231226
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age, Hyperglycem... ORPHA:391673
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Im... OMIM:606069
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Bernard-Soulier Syndrome
Thrombocytopenia, Menorrhagia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, De... ORPHA:85138
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Retinal dystrophy, Hypogonadotropic hypogonadis... ORPHA:353298
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Mirage Syndrome
Radial club hand, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Hypoglycemia, Decrea... OMIM:617053
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Halothane Hepatitis
Eosinophilia, Obesity OMIM:234350
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Hyperkalemia, Precociou... OMIM:614736
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, EEG abnormality, Elevated circulating C-reactive protein concentratio... ORPHA:1930
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Amenorrhea, Oligomenorrhea, Adipose t... ORPHA:528
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, S... ORPHA:3085
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Primary amenorrhea, Osteopenia OMIM:615363
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Hyperbilirubinemia, Hyponatremia, Neutrope... ORPHA:1667
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Chronic lymphatic leukemia, Weight loss, Normocytic... ORPHA:98849
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Sheehan Syndrome
Pituitary hypothyroidism, Sensorineural hearing impairment, Abnormal size of pituitary gland, Obe... ORPHA:91355
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Pituitary hypothyroidism, Sensorineural hearing impairment, Abnormal size of pituitary gland, Dec... ORPHA:95512
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Primary adrenal insufficienc... ORPHA:95409
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Joint contracture of the hand, Craniosynostosis, Eosinophilia OMIM:618523
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia OMIM:240200
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Cataract 24
Anterior polar cataract OMIM:601202
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Nephrogenic diabetes insipidus, Failure to thrive OMIM:125800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Joint hypermobility, Eosinophilia OMIM:618282
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Sensorineural hearing impairmen... ORPHA:95513
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Hearing impairment, Abnormal ci... ORPHA:100924
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Roifman Syndrome
Hip contracture, Splenomegaly, Eosinophilia, Retinal dystrophy OMIM:616651
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Wells Syndrome
Cellulitis, Eosinophilia ORPHA:901
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Anemia, Splenomegaly, ... ORPHA:39041
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Oligomen... ORPHA:95613
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Abnorm... ORPHA:369873
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hypereosinophilia, Elevated circulating C-reactive prot... OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Kimura Disease
Eosinophilia ORPHA:482
Webb-Dattani Syndrome
Hypernatremia, Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Di... OMIM:615926
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Osteoporosis, Conductive hearing impairment, Hyperbilirubinemia, Increased mean platelet volume, ... OMIM:607330
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating ren... ORPHA:556037
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus, Hyperglyc... OMIM:618856
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperinsulinemia, Insulin resistance, Flexion contracture, Lipodystrophy, Hypertrig... OMIM:613327
Whipple Disease
Insulin resistance, Erectile dysfunction, Hypothyroidism, Hyponatremia, Cachexia, Anemia, Splenom... ORPHA:3452
Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Hypoglycemia, Abn... ORPHA:810
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hypertriglyceridemia... ORPHA:363400
Congenital Varicella Syndrome
Cataract ORPHA:291
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating ren... ORPHA:556030
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Takenouchi-Kosaki Syndrome
Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Posteriorly rotated ears, Inguin... OMIM:616737
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Hearing impairment, Truncal obesity, Type... ORPHA:181393
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Neonatal hypoglycemia... ORPHA:199296
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Nephrogenic Diabetes Insipidus
Hypernatremia, Nephrogenic diabetes insipidus, Failure to thrive ORPHA:223
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Immunodeficiency 49
Posteriorly rotated ears, Umbilical hernia, Lymphopenia, Eosinophilia OMIM:617237
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hyponatremia, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocortico... ORPHA:91354
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Pigmentary retinopath... OMIM:606721
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Decreased eosinophil count OMIM:131430
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Hypothy... ORPHA:231222
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Conductive hearin... ORPHA:443811
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia, Hypoglycemia OMIM:610090
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia OMIM:613412
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Cellulitis, Joint hyperflexibility, Recurrent fractures, Osteopenia, Osteomyeli... ORPHA:2314
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Decreased circulating aldosterone level, Osteoporosis, Elevated circulating lute... ORPHA:289548
Retinitis Pigmentosa 4
Cataract OMIM:613731
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Alstrom Syndrome
Progressive sensorineural hearing impairment, Hyperinsulinemia, Pigmentary retinopathy, Multinodu... OMIM:203800
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, R... ORPHA:79277
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Elevated circulating luteinizing hormone level, Decreased circulating androgen conc... ORPHA:168558
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Failure to t... OMIM:214700
Estrogen Resistance Syndrome
Osteoporosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Ab... ORPHA:785
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Hypothyroidism, Lymphopenia, Increased mean plat... ORPHA:84064
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Hyperaldos... OMIM:177735
Cystic Echinococcosis
Peritoneal abscess, Bone cyst, Hyperbilirubinemia, Weight loss, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Abnormality of r... ORPHA:167
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone level, Failure... OMIM:203400
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Adrenal Hypoplasia, Congenital
Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol level, Primary adre... OMIM:300200
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Failure to thrive, Hepatosplenomegaly, Eosinophilia OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Weight loss, Increased circulating renin level, Failure to thrive in infancy, Abnor... ORPHA:171876
Immunodeficiency 23
Joint hypermobility, Hemolytic anemia, Conductive hearing impairment, Lymphopenia, Neutropenia, S... OMIM:615816
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Macrotia, Cen... OMIM:619326
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Perlman Syndrome
Thickened helices, Hyperinsulinemia, Posteriorly rotated ears, Inguinal hernia, Femoral hernia ORPHA:2849
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Hearing impairment, Anemia, Elevated circulat... OMIM:618838
Snakebite Envenomation
Thrombocytopenia, Hyponatremia, Hypopituitarism ORPHA:449285
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea ORPHA:2528
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Sensorineural hearing impairment, Failure to thriv... OMIM:613090
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Anemia,... OMIM:604290
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Failure to thrive, Eosinophilia ORPHA:90045
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Retinitis Pigmentosa 2
Cataract OMIM:312600
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment, Hyponatremia ORPHA:3225
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Macrotia, Reduced intra... OMIM:269700
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Central Diabetes Insipidus
Diabetes insipidus, Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Failure to thrive, Pseudo... OMIM:264350
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Macrotia, Reduced intra... OMIM:608594
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Failure to thrive OMIM:617718
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hearing impairment, Failure to thrive, Hypoglycemia ORPHA:67048
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Pigmentary retinopathy, Rickets, Hypophosphatemic ... OMIM:219800
Porphyria Variegata
Scarring, Hyponatremia, Abnormal autonomic nervous system physiology, Abnormal circulating porphy... ORPHA:79473
Osteomyelitis, Eosinophilia, Neutropenia, Vitritis ORPHA:1163
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Weight loss, Thromb... ORPHA:88673
Classic Galactosemia
Osteoporosis, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like growth... ORPHA:79239
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... ORPHA:1451
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Macrotia, Postprandial hyperglycemia, Adipose tissue loss... OMIM:246200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Weight loss, Histiocytosis, Hypoalbuminem... OMIM:209950
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari... OMIM:611102
Osteomyelitis, Flexion contracture, Brachial plexus neuropathy, Hypereosinophilia, Facial palsy, ... ORPHA:801
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Retinitis Pigmentosa 37
Cataract OMIM:611131
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Hypogly... ORPHA:90790
Retinitis Pigmentosa 9
Cataract OMIM:180104
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A...