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
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... OMIM:618889
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Recurrent otitis media, Obesity, Hearing impairment, Hy... OMIM:615993
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... ORPHA:79084
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology, Retinal degeneration, Increased neuronal autofluoresce... OMIM:601780
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... OMIM:303110
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... ORPHA:71529
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... ORPHA:791
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Cerebral atrophy, Retinal degeneration, Increased extr... OMIM:204500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio... OMIM:618144
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... OMIM:520000
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Hearing impairment, Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic ... OMIM:610951
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Hyperinsulinemia, Type II ... ORPHA:3085
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Insulin Autoimmune Syndrome
Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive... ORPHA:411593
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Hypogonadism OMIM:615988
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Cerebral cortical atrophy, Retinal degeneration, Elevated circu... OMIM:300438
Ceroid Lipofuscinosis, Neuronal, 1
EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Inc... OMIM:256730
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Bardet-Biedl Syndrome 12
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615989
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Macular degeneration OMIM:612948
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal in... ORPHA:436182
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... OMIM:204200
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Poly... OMIM:604367
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Dysphagia, Low-set ears, Bilateral sen... OMIM:264470
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Retinal degeneration, Small for gestationa... OMIM:275400
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Smith-Magenis Syndrome
EEG abnormality, Abnormality of the thyroid gland, Morphological abnormality of the middle ear, R... OMIM:182290
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Obesity, Cerebral atrophy, Retinal dystrophy OMIM:616756
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy, Decreased LDL cholesterol concentrat... ORPHA:79320
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Bardet-Biedl Syndrome 5
Macular dystrophy, Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615983
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... OMIM:617119
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Cofs Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebral cortical atrophy,... ORPHA:1466
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Retina... OMIM:256731
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, O... OMIM:204000
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Kearns-Sayre Syndrome
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Type II diabetes mellitus ORPHA:2579
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Abnormality o... ORPHA:3019
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Pigmentary retinopathy OMIM:609016
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy, Hypogonadism OMIM:615982
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Trunc... OMIM:615986
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, Wide anterior fontanel, Abnormality of retinal pigmentation, EE... ORPHA:44
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Microcephaly-Cardiomyopathy Syndrome
Abnormality of the outer ear, Abnormality of retinal pigmentation ORPHA:2515
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Elevated circulating creatine ki... OMIM:619473
Optic Atrophy 8
Optic atrophy, Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Lipodystrophy, Increased intraabdominal... ORPHA:79085
Canavan Disease
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality ORPHA:141
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... OMIM:613877
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity OMIM:614947
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
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
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Retinal degeneration, Rod-cone dystrophy, Hyperammonemia, Cerebr... ORPHA:391428
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... OMIM:610127
Diprosopus
Abnormality of retinal pigmentation, External ear malformation ORPHA:1681
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Degeneration of the latera... OMIM:604360
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Cerebellar atrophy, Hypergastrinemia OMIM:252650
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, D... OMIM:249270
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Overweight, Hyp... OMIM:616222
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, ... ORPHA:435651
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Retinal degeneration OMIM:225755
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus, Hearing imp... ORPHA:2801
Summitt Syndrome
Obesity OMIM:272350
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Failure to thrive, Abnormal ... ORPHA:99852
Niemann-Pick Disease, Type B
Abnormal macular morphology, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Incre... OMIM:607616
Ring Chromosome 14 Syndrome
Low-set ears, Pigmentary retinopathy OMIM:616606
Abcd Syndrome
Large for gestational age, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked pot... OMIM:600501
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuat... OMIM:619260
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin... OMIM:615238
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Spinocerebellar Ataxia 7
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating creatine kinase conc... OMIM:610717
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Polycystic ovaries, Loss of gluteal subcu... ORPHA:435660
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Elevated alpha-fetoprotein, Conjunctival telangiectasia, Optic atrophy, ... ORPHA:95433
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo... ORPHA:897
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Abnormal retinal vascular... ORPHA:1390
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Otitis media, Hypergonad... OMIM:203800
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Large fleshy ears, Abnormal pinna morphology, Congenital stationary night blindness, Cerebral cor... ORPHA:352530
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Refsum Disease, Classic
Sensorineural hearing impairment, Elevated levels of phytanic acid, Retinal degeneration, Rod-con... OMIM:266500
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic steatosis OMIM:615980
Congenital Toxoplasmosis
Hearing impairment, Abnormality of retinal pigmentation, Failure to thrive in infancy ORPHA:858
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, Tall stature, Femo... ORPHA:2849
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Leigh Syndrome With Leukodystrophy
Optic atrophy, Failure to thrive, Hearing impairment, Pigmentary retinopathy ORPHA:255241
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy OMIM:616171
Syndromic X-Linked Intellectual Disability 7
Obesity, Cryptorchidism, Hypogonadism ORPHA:85274
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Dysphagia, Hearing impairment, Pigmentary retinopathy ORPHA:329336
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... ORPHA:528
Idiopathic Intracranial Hypertension
Papilledema, Vertigo, Pulsatile tinnitus, Obesity ORPHA:238624
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Optic disc pallor, Retrobulbar ... OMIM:619737
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Abnormal helix morphology ORPHA:1259
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Bardet-Biedl Syndrome 19
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615996
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Congenital stationary night blindness, Abnormali... ORPHA:90646
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Cerebral atrophy, Retinal dystrophy, Obesity, Puberty and gonad... ORPHA:464282
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Smith-Magenis Syndrome
Conductive hearing impairment, EEG abnormality, Precocious puberty, Retinal detachment, Chronic o... ORPHA:819
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... ORPHA:1435
Hernández-Aguirre Negrete Syndrome
Obesity, EEG abnormality, Low-set, posteriorly rotated ears, Delayed puberty ORPHA:2139
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, H... OMIM:615558
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Truncal obesity, Hypogonadism OMIM:268050
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Abnormal ear morphology OMIM:618010
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Hearing impairment, Retinal infarction, Abnormal... OMIM:180080
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Nephronophthisis 14
Retinal degeneration OMIM:614844
Bardet-Biedl Syndrome 7
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615984
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Narcolepsy Type 1
Obesity ORPHA:2073
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration, Retinopathy, Hydroxypr... OMIM:239000
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Immunodeficiency 61
Agammaglobulinemia, Obesity OMIM:300310
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Dysphagia... OMIM:617519
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Low-set, posteriorly rotated ears, Pigmentary retinopathy, Hypogonadism,... ORPHA:110
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Elevated levels of ph... OMIM:614307
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Bardet-Biedl Syndrome 17
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, B... OMIM:615994
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Cerebra... ORPHA:370968
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Leigh Syndrome
Optic atrophy, Failure to thrive, Sensorineural hearing impairment, Pigmentary retinopathy OMIM:256000
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Cerebral atrophy, Pigmentary retinopathy, O... OMIM:222300
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Retinitis Punctata Albescens
Congenital sensorineural hearing impairment, Absent foveal reflex, Cystoid macular edema, Abnorma... ORPHA:52427
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Retinal deg... OMIM:615249
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Congenital Rubella Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Type I diabetes mellitus ORPHA:290
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type II diabetes mellitus, Abnormal motor evoked potentials, Delayed menarche, Parietal cortical ... ORPHA:412057
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine... OMIM:212140
Vici Syndrome
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebral cortical atrophy,... ORPHA:1493
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Protruding ear, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Hypergonadotropic hypogonadism, Pig... OMIM:268020
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Rod-cone dystrophy, Glycosuria, Optic atrophy, Optic disc pallo... OMIM:268315
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Brain atrophy, Cerebral atrophy, Retinal degeneration, Optic atrophy, EEG with... ORPHA:442835
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... OMIM:606407
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Abnormality of the hypothalam... ORPHA:1173
Mpi-Cdg
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
11P15.4 Microduplication Syndrome
Obesity, Posteriorly rotated ears, Macrotia ORPHA:300305
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Decreased body weight, Rod-cone dystrophy, Abetalipoproteinemia... ORPHA:96180
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormal calcium-phosphate regulating hormone level, Abnormality of retinal pig... ORPHA:2196
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Cholestasis, Elevated hepatic transaminase, Portal f... OMIM:614300
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Galactokinase Deficiency
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Small for gestational age,... ORPHA:79237
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Abnormality of ret... ORPHA:580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism ORPHA:363741
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Failure to thrive, Pigmentary retinopathy, Type I dia... OMIM:560000
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Diabetes mellitus, Retinal degeneration, Rod-c... OMIM:209900
Bardet-Biedl Syndrome 3
Obesity, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
6Q16 Microdeletion Syndrome
Microtia, Polyphagia, Abnormal ear morphology, Obesity, Low-set ears ORPHA:171829
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Hypogonadism, Lipodystrophy, Di... OMIM:615381
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Aceruloplasminemia, Decreased... OMIM:604290
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Neuronal loss in central nervous system, Cerebral atrophy OMIM:615924
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism OMIM:601794
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... ORPHA:54595
Cone-Rod Dystrophy And Hearing Loss 1
Sensorineural hearing impairment, Retinal atrophy, Macular degeneration OMIM:617236
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Polycystic ovaries, Generalized lipodystrophy, Acute p... ORPHA:79086
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism ORPHA:261483
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Severe sensorineural hearing impairment, Obesity, Chorioretinal coloboma OMIM:600122
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia,... ORPHA:436245
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Decreased testicular size, Hypogonadism OMIM:614962
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Brain atrophy, Hyperglycinemia, Pigmentary retinopathy OMIM:619059
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Arthrogryposis, Distal, Type 5
Protruding ear, Abnormality of retinal pigmentation OMIM:108145
Bardet-Biedl Syndrome 8
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615985
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Hypoglycemia, M... OMIM:300148
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... OMIM:619386
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Cerebral cortical atrophy, Abnormality of the thyroid gland,... ORPHA:77296
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypocalcemia, Small for gestational age, Papilledema, Retinal calcification, ... OMIM:127000
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ... OMIM:618805
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hyperc... ORPHA:254531
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus OMIM:172500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Failure to thrive, Rod-cone dystrophy, Steatorrhea, Retinal dys... OMIM:266510
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity OMIM:616629
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal fleck... ORPHA:100996
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... ORPHA:905
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Polycystic ovaries... ORPHA:90970
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Polycystic ovaries, Maternal di... ORPHA:79083
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Distal 16P11.2 Microdeletion Syndrome
Rod-cone dystrophy, Retinal dystrophy, Hyperuricemia, Obesity, Aganglionic megacolon ORPHA:261222
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Decreased testicular size, Diabet... OMIM:610628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Cerebra... OMIM:613156
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Polycystic ovaries, Lipodystro... ORPHA:2348
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Mehmo Syndrome
Large earlobe, Obesity, EEG abnormality, Diabetes mellitus ORPHA:85282
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Brain atrophy, Abnormal retinal morphology on macular OCT, Polypha... ORPHA:251004
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Retinal degeneration, Impaired glucose tolerance OMIM:615630
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Borjeson-Forssman-Lehmann Syndrome
Obesity, EEG abnormality, Delayed puberty, Macrotia OMIM:301900
Abetalipoproteinemia
Retinopathy, Abetalipoproteinemia, Retinal degeneration OMIM:200100
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepati... OMIM:278000
Bardet-Biedl Syndrome 6
Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Diabetes mellitus OMIM:605231
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic a... ORPHA:2715
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dy... ORPHA:166035
Scheie Syndrome
Retinal degeneration OMIM:607016
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Cerebral atrophy, Retinal degeneration, EEG with spike-wave co... ORPHA:168491
Laurence-Moon Syndrome
Obesity, Cryptorchidism, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Macrocephaly/Autism Syndrome
Obesity, Decreased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:605309
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Abno... ORPHA:585
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atrophy, Hypok... ORPHA:5
Multiple Sulfatase Deficiency
Hearing impairment, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy OMIM:272200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... OMIM:261680
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cort