Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tubby bipartite transcription factor
Synonyms:
rd5,  tub

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Tub 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 Tub by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Bardet-Biedl Syndrome 16
Recurrent otitis media, Retinal degeneration, Hearing impairment, Hypogonadism, Rod-cone dystroph... OMIM:615993
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Polycystic... ORPHA:280356
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Retina... OMIM:601780
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Conductive hearing impairment, Sensorineur... ORPHA:791
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Incr... OMIM:204500
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura... OMIM:618144
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Diabetes And Deafness, Maternally Inherited
Vertigo, Vestibular dysfunction, Pigmentary retinopathy, Retinal degeneration, Sensorineural hear... OMIM:520000
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Hearing impairment, Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy OMIM:619090
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Abcd Syndrome
Albinism, Aganglionic megacolon, Hypopigmentation of the fundus, Hearing impairment, Abnormal aud... OMIM:600501
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cerebellar... ORPHA:3085
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, EEG abnormality,... OMIM:610951
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal atroph... OMIM:303110
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Bardet-Biedl Syndrome 11
Hypogonadism, Retinopathy, Obesity OMIM:615988
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, EEG abnor... OMIM:256730
Bardet-Biedl Syndrome 12
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615989
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Sensorineural hearing impairment, Macular degeneration, Large earlobe OMIM:612948
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Delayed puberty, Small for g... OMIM:275400
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Bardet-Biedl Syndrome 22
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:617119
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retinal... ORPHA:436182
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Orthostatic hypotension, Pigmentary retinopathy, Insul... OMIM:606721
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Low-set ears, Cerebellar atrophy, Increased neuronal autofluor... OMIM:610127
Smith-Magenis Syndrome
Hypercholesterolemia, Morphological abnormality of the middle ear, Abnormality of the outer ear, ... OMIM:182290
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... OMIM:616188
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Dysphagia, Low-set ears, Bilateral sensorineural hearing impairment, Opti... OMIM:264470
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus, Rod-cone dystrophy, Retinal dystrophy OMIM:605231
Hsd10 Mitochondrial Disease
Hypoglycemia, Retinal degeneration, Cerebral cortical atrophy, Sensorineural hearing impairment, ... OMIM:300438
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Lipoatrophy OMIM:613877
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Combined Oxidative Phosphorylation Deficiency 37
Retinal degeneration, Hypoglycemia, Cerebellar atrophy, Sensorineural hearing impairment, Hyperal... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Sensorineural hearing impairment, Cerebral atrophy, Retinal dystrophy OMIM:616756
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Splenomegaly, Reduced subcuta... OMIM:612526
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Ramon Syndrome
Abnormality of retinal pigmentation, Conductive hearing impairment, Sensorineural hearing impairm... ORPHA:3019
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Hearing impairment, Truncal obesity, Fail... ORPHA:181393
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Sensorineural hearing impairment,... ORPHA:1466
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Ring Chromosome 14 Syndrome
Low-set ears, Pigmentary retinopathy OMIM:616606
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect... OMIM:256731
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Type II diabetes mellitus ORPHA:2579
Kearns-Sayre Syndrome
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Hyperthreoninemia, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Bardet-Biedl Syndrome 9
Polyphagia, Attenuation of retinal blood vessels, Polydipsia, Retinal degeneration, Truncal obesi... OMIM:615986
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy OMIM:615147
Bardet-Biedl Syndrome 4
Hypogonadism, Rod-cone dystrophy, Retinal degeneration, Obesity OMIM:615982
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Wide anterior fontanel, Low-set, posteriorly rotated ears, P... ORPHA:44
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal macular morphology, Increased LDL cholesterol concentration, Decre... OMIM:607616
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
Mody
Abnormal oral glucose tolerance, Overweight, Exocrine pancreatic insufficiency, Hyperinsulinemic ... ORPHA:552
Bardet-Biedl Syndrome 21
Retinal atrophy, Overweight, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macu... OMIM:617406
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Abnormality of the outer ear ORPHA:2515
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Narp Syndrome
Retinal pigment epithelial mottling, Cerebral cortical atrophy, Hearing impairment, Corticospinal... ORPHA:644
Canavan Disease
Hearing impairment, Optic atrophy, Abnormality of retinal pigmentation, EEG abnormality ORPHA:141
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Hsd10 Disease, Infantile Type
Dysphagia, Cerebral atrophy, Neurodegeneration, Retinal degeneration, Frontotemporal cerebral atr... ORPHA:391428
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:617613
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Decreased response to growth hormone stimuation test, ... OMIM:609734
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Increased neuronal autoflu... OMIM:204200
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Mucolipidosis Iv
Hypergastrinemia, Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Dysphagia, Retinal degeneration, Cerebral corti... OMIM:604360
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Mgat2-Cdg
Tall stature ORPHA:79329
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Decreased response to growth hormone stimuation test OMIM:225755
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Recurrent otitis media, P... OMIM:616222
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Cone/cone-rod dystrophy, Sensorineural hearing impairment, Optic atrophy, D... OMIM:249270
Bardet-Biedl Syndrome 2
Retinal degeneration, Hypogonadism, Diabetes mellitus, Rod-cone dystrophy, Obesity OMIM:615981
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Hyperuricemia, Hearing impairment, Optic ... ORPHA:2801
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Summitt Syndrome
Obesity OMIM:272350
Diprosopus
External ear malformation, Abnormality of retinal pigmentation ORPHA:1681
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Spinocerebellar Ataxia 7
Dysphagia, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... ORPHA:99852
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity OMIM:614947
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating a... OMIM:301045
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... ORPHA:1390
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Alstrom Syndrome
Progressive sensorineural hearing impairment, Hyperinsulinemia, Pigmentary retinopathy, Multinodu... OMIM:203800
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Dysphagia, Caudate atrophy, Absent brainstem audito... ORPHA:52368
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Sensorineural hearing i... OMIM:610717
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Refsum Disease, Classic
Elevated levels of phytanic acid, Sensorineural hearing impairment, Rod-cone dystrophy, Retinal d... OMIM:266500
Leigh Syndrome With Leukodystrophy
Hearing impairment, Optic atrophy, Failure to thrive, Pigmentary retinopathy ORPHA:255241
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... OMIM:619260
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormality of the pinna, Cerebral cortical atrophy, Congenital hypothyroidism, Congenital statio... ORPHA:352530
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Congenital Toxoplasmosis
Hearing impairment, Abnormality of retinal pigmentation, Failure to thrive in infancy ORPHA:858
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Ab... ORPHA:2849
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spinocerebellar atrophy, Mildly elevated creatine kinase, Elevated alpha-f... ORPHA:95433
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... OMIM:151660
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue loss, Lipodyst... ORPHA:528
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Dysphagia, Hearing impairment, Pigmentary retinopathy ORPHA:329336
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Idiopathic Intracranial Hypertension
Obesity, Vertigo, Papilledema, Pulsatile tinnitus ORPHA:238624
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Hyperuricemia, Retinal degeneration, Sensorineural hearing impai... OMIM:239000
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Bardet-Biedl Syndrome 19
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615996
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Stapes ankylosis, Conductive hearing impairment, Pituitary hyp... ORPHA:1435
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Abnormality of the helix ORPHA:1259
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Hypogonadism, Retinal degeneration, Obesity OMIM:615994
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Cerebral atrophy, Retinal dystrophy, Sensorineural hearing impairm... ORPHA:464282
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep... OMIM:619048
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality... OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity, Pigmentary retinopathy OMIM:268050
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Delayed puberty, EEG abnormality, Obesity ORPHA:2139
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Pigmentary retinopathy, Dysphagia, Cerebral atrophy, Retinal degenera... ORPHA:79264
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:613660
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Hypertriglyceridemia OMIM:618010
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Smith-Magenis Syndrome
Hypercholesterolemia, Conductive hearing impairment, Hypothyroidism, Chronic otitis media, Failur... ORPHA:819
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Nephronophthisis 14
Retinal degeneration OMIM:614844
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Wolfram Syndrome 1
Pigmentary retinopathy, Dysphagia, Hypothyroidism, Cerebral atrophy, Testicular atrophy, Sensorin... OMIM:222300
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Neonatal hypoglycemia, Macrotia, Hypergonadotropic hypogonadism, Poster... OMIM:606407
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur... OMIM:602579
Narcolepsy Type 1
Obesity ORPHA:2073
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Leigh Syndrome
Failure to thrive, Sensorineural hearing impairment, Pigmentary retinopathy, Optic atrophy OMIM:256000
Immunodeficiency 61
Agammaglobulinemia, Obesity OMIM:300310
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Congenital Muscular Dystrophy With Intellectual Disability
Elevated circulating creatine kinase concentration, Cerebral cortical atrophy, Facial palsy, Pigm... ORPHA:370968
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Type I diabetes mellitus ORPHA:290
Oguchi Disease
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness ORPHA:75382
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Protruding ear, Optic atrophy ORPHA:2518
Bardet-Biedl Syndrome
Pigmentary retinopathy, Low-set, posteriorly rotated ears, Hearing impairment, Hypogonadism, Hypo... ORPHA:110
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Increased circulating IgG level, Type II diabetes mel... ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Retinal deg... OMIM:615249
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Hypergonadotropic hypogonadism, Cerebral atrophy, Insulin-resistant diabe... OMIM:268020
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blotching pigmentation of the skin, Mottled pigmentation of photoexposed ... OMIM:560000
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine l... OMIM:212140
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Cerebral cortical atrophy, Sens... ORPHA:1493
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreas... ORPHA:96180
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Corpus callosum atrophy, Dysphagia, Hypothyroidism, Abnormal motor evoked potent... ORPHA:412057
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
11P15.4 Microduplication Syndrome
Posteriorly rotated ears, Obesity, Macrotia ORPHA:300305
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormal calcium-phosphate regulating hormone level, Chorioretinal coloboma, Abnormality of retin... ORPHA:2196
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Hypogonadism, Optic atrophy, ... ORPHA:1173
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Diabete... OMIM:604290
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, H... OMIM:209900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ... OMIM:614300
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Mucopolysaccharidosis Type 2
Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab... ORPHA:580
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal ear morphology, Low-set ears, Microtia, Obesity ORPHA:171829
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion con... OMIM:615381
Craniopharyngioma
Vertigo, Polyphagia, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Central adr... ORPHA:54595
Non-Specific Early-Onset Epileptic Encephalopathy
EEG with multifocal slow activity, Hypsarrhythmia, Cerebral atrophy, Retinal degeneration, Brain ... ORPHA:442835
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Severe sensorineural hearing impairment, Chorioretinal coloboma, Obesity OMIM:600122
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Cerebral atrophy, Neuronal loss in central nervous system OMIM:615924
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Macrotia, Attached earlobe, Low-set ears, Patchy atrophy of the retinal pigment epithelium, Rod-c... ORPHA:436245
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity ORPHA:363741
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy OMIM:617236
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Protruding ear OMIM:108145
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure ... ORPHA:300536
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Diabetes mellitus, Obesity OMIM:610628
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Adr... OMIM:619386
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:608594
Mehmo Syndrome
Male hypogonadism, Macrotia, Decreased response to growth hormone stimuation test, Hypoglycemia, ... OMIM:300148
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Low-set ears, Hypertriglyceridemia, Adrenal insufficienc... OMIM:307030
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity OMIM:614962
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Retinal calcification, Papilledema, Transient hypophosphatemia, Small for gestation... OMIM:127000
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... ORPHA:2348
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Diabetes mellitus, Cochlear degeneration OMIM:172500
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Cerebral cortical atrophy, Facial palsy, Pigm... OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retin... ORPHA:100996
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperglycinemia, Hyperalaninemia, Pigmentary retinopathy, Brain atrophy OMIM:619059
Senior-Loken Syndrome 9
Retinal dystrophy, Hypogonadism, Macular degeneration, Rod-cone dystrophy, Obesity OMIM:616629
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:600151
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, Precocious pu... ORPHA:254531
Bardet-Biedl Syndrome 8
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615985
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia, Retinal dystrophy, Sensorineural hearing impairment, Failure to... OMIM:266510
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Retinal degeneration OMIM:200100
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Macrotia, Abnormal retinal vascular morphology, Hypopigmente... ORPHA:2715
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Mehmo Syndrome
Diabetes mellitus, EEG abnormality, Large earlobe, Obesity ORPHA:85282
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty, EEG abnormality, Macrotia OMIM:301900
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista... ORPHA:79083
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Glucose intolerance, Retinal degeneration, Obesity OMIM:615630
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:269700
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Hyperuricemia, Retinal dystrophy, Rod-cone dystrophy, Obesity ORPHA:261222
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Polyphagia, Abnormal retinal morphology on macular OCT, Macular dy... ORPHA:251004
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Sensorineural he... ORPHA:585
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries,... ORPHA:90970
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Obesity OMIM:605309
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal thinning, Retinal dystrophy OMIM:615960
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Hypoketotic hypoglycemia,... ORPHA:5
Rafiq Syndrome
Obesity OMIM:614202
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with spike-wave complexes, EEG with series of focal spikes, Corpus callosum atrophy, EEG with... ORPHA:168491
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Simple ear, Decreased amplitude of sensory action potentials, Retinal pigm... OMIM:618733
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab... ORPHA:217085
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Cerebellar atrophy, Sensorineural hearing impairment, Decrease... OMIM:610651
Multiple Sulfatase Deficiency
Hearing impairment, Cerebral atrophy, Cerebellar atrophy, Retinal degeneration OMIM:272200
Scheie Syndrome
Retinal degeneration OMIM:607016
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab... ORPHA:217093
Frontotemporal Dementia
Polyphagia, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Microtriplication 11Q24.1
Attached earlobe, Posteriorly rotated ears, Hearing impairment, Hyperlipidemia, Obesity ORPHA:289522
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Dysphagia, Weight loss, Rod-cone dystrophy, Optic disc pallor ORPHA:216866
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Low-frequency sensorineural h... OMIM:613101
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Transient hearing impairment, Chori... ORPHA:448237
Papillorenal Syndrome
Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Sensorineural hearing impairment,... OMIM:120330
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c... OMIM:613327
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity OMIM:617885
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Macrotia, Retinal degeneration, Low-set ears, Cerebral cortical atrophy, Cafe-au-lait spot, Rod-c... ORPHA:166035
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Premature graying of hair, Macrotia, Insulin resistance, Hypothyroidism, Im... ORPHA:769
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
X-Linked Acrogigantism