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Gene: Apmap MGI:1919131

Gene Summary

Name:

adipocyte plasma membrane associated protein

Synonyms:

2310001A20Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alanine transaminase level	Apmap^em1(IMPC)J	HOM	Late adult	2.00×10^-07
abnormal vitreous body morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.29×10^-05
decreased grip strength	Apmap^em1(IMPC)J	HOM	Late adult	6.96×10^-06
abnormal mouth morphology	Apmap^em1(IMPC)J	HOM	Late adult	2.52×10^-05
fused cornea and lens	Apmap^em1(IMPC)J	HOM	Late adult	5.29×10^-05
increased circulating HDL cholesterol level	Apmap^em1(IMPC)J	HOM	Late adult	6.65×10^-07
abnormal lens morphology	Apmap^em1(IMPC)J	HOM	Late adult	3.02×10^-05
abnormal retina blood vessel morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.29×10^-05
iris synechia	Apmap^em1(IMPC)J	HOM	Late adult	9.59×10^-08
decreased lean body mass	Apmap^em1(IMPC)J	HOM	Late adult	6.99×10^-06
abnormal optic disk morphology	Apmap^em1(IMPC)J	HOM	Late adult	6.78×10^-05
increased circulating cholesterol level	Apmap^em1(IMPC)J	HOM	Late adult	9.85×10^-05
abnormal retina vasculature morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.29×10^-05
abnormal startle reflex	Apmap^em1(IMPC)J	HOM	Late adult	8.76×10^-05
increased circulating phosphate level	Apmap^em1(IMPC)J	HOM	Late adult	2.65×10^-07
abnormal vibrissa morphology	Apmap^em1(IMPC)J	HOM	Late adult	9.87×10^-07
increased total body fat amount	Apmap^em1(IMPC)J	HOM	Late adult	7.47×10^-06

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Eye Morphology

Images Ophthalmoscopy

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Apmap 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.

Human diseases associated with Apmap (0 diseases)
Human diseases predicted to be associated with Apmap (607 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Schizophrenia 19	Cognitive impairment	OMIM:617629
Alzheimer Disease 10	Memory impairment, Dementia	OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Cognitive impairment, Dementia	OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Polyphagia	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test...	ORPHA:71526
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy, Tremor	OMIM:165300
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Mate...	ORPHA:324575
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ...	ORPHA:276580
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia	OMIM:144300
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Type I diabetes mellitus, ...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease...	OMIM:615238
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemic hypoglycemia, Agitation, Di...	ORPHA:276556
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ...	ORPHA:435660
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Autoimmune Hypoparathyroidism	Conjunctivitis, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Laryngeal dystonia, Hypocalcemi...	ORPHA:36913
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased...	ORPHA:79085
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Small for gestational age, ...	OMIM:127000
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Hypocalcemia, Obesity	OMIM:612462
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Linear Verrucous Nevus Syndrome	Retinopathy, Sparse scalp hair, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Cata...	ORPHA:2611
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia	OMIM:222100
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi...	ORPHA:435651
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi...	ORPHA:279914
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1	ORPHA:314802
Spastic Ataxia-Corneal Dystrophy Syndrome	Corneal dystrophy, Optic atrophy, Developmental cataract	ORPHA:2572
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Obesity	OMIM:103580
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca...	OMIM:613154
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Polyphagia	ORPHA:329249
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Attenuation of retinal blood vessels, Optic atrophy	OMIM:165510
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Obesity, Hypocalcemia	OMIM:603233
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy, Hyperch...	OMIM:612526
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Retinopathy, Angioid streaks of the fundus, Retinal degeneratio...	OMIM:239000
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance	ORPHA:369873
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract	OMIM:616722
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Morbid Obesity And Spermatogenic Failure	Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc...	OMIM:615703
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia	OMIM:618406
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia	OMIM:617885
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hyperphosphatemia, Angioid streaks of...	OMIM:211900
Oculoauricular Syndrome	Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster...	OMIM:612109
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Peripheral axonal neuropathy, Hypercholesterolemia	OMIM:607250
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy...	ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia, Increased body weight	ORPHA:94086
Analbuminemia	Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:66628
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ...	ORPHA:209959
Pseudohypoparathyroidism Type 1B	Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ...	ORPHA:94089
Idiopathic Anterior Uveitis	Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle...	ORPHA:280914
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph...	OMIM:614963
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Obesity, Hypocalcemia	ORPHA:79445
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole...	OMIM:619868
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:179494
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ...	OMIM:305390
Sanjad-Sakati Syndrome	Hyperphosphatemia, Astigmatism, Corneal opacity, Hypocalcemia, Abnormal dental enamel morphology	ORPHA:2323
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Hypogonadism	OMIM:614962
Leber Congenital Amaurosis 2	Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P...	OMIM:204100
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin...	OMIM:620058
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Retinal calcification, Developmental cataract, Hypocalcem...	ORPHA:93325
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,...	OMIM:133780
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr...	ORPHA:97279
Anterior Segment Dysgenesis 2	Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an...	OMIM:610256
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration	OMIM:614025
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Idiopathic Panuveitis	Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu...	ORPHA:280921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col...	ORPHA:1473
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Growth Hormone Insensitivity Syndrome	Failure to thrive, Truncal obesity, Fine hair, Hypercholesterolemia	ORPHA:181393
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels...	OMIM:604393
Autosomal Dominant Hypocalcemia	Alopecia, Hyperphosphatemia, Optic atrophy, Writer's cramp, Hypocalcemia, Hypomagnesemia	ORPHA:428
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hyperphosphatemia, Blue irides, Optic atrophy	OMIM:101800
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Tremor, Dysto...	OMIM:208920
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to...	ORPHA:79237
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli...	ORPHA:254516
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Eales Disease	Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V...	ORPHA:40923
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia	OMIM:614207
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys...	OMIM:251270
Calciphylaxis	Hyperphosphatemia, Cellulitis	ORPHA:280062
Pseudohypoparathyroidism Type 1C	Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ...	ORPHA:79444
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor	OMIM:616171
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Striatonigral Degeneration, Infantile	Failure to thrive, Choreoathetosis, Dystonia, Optic atrophy	OMIM:271930
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract	OMIM:204200
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia	ORPHA:99845
Peripheral Cone Dystrophy	Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy	OMIM:609021
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir...	ORPHA:231736
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch...	OMIM:614195
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero...	OMIM:616828
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Cataract, Optic atrophy, Abnormal circulating cholesterol concentration	OMIM:270800
Pseudohypoparathyroidism Type 1A	Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathe...	ORPHA:79443
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
Leber Congenital Amaurosis 9	Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro...	OMIM:608553
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op...	OMIM:300476
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Oculogyric crisis...	ORPHA:94093
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture...	OMIM:609260
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Woolly Hair	Abnormal pupil morphology, Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow,...	ORPHA:170
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Alopecia, Hyperphosphatemia, Obesity, Abnormal hair quantity	ORPHA:457059
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ...	ORPHA:64753
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Postural tremor, Optic atrophy, Retinal telangiectasia	ORPHA:104
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Graves Disease, Susceptibility To, 1	Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves...	OMIM:275000
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p...	OMIM:608594
Smith-Magenis Syndrome	Synophrys, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Increased body weight	OMIM:182290
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm...	ORPHA:1617
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p...	OMIM:269700
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the macula, Hypopigmentation of h...	ORPHA:33445
Isolated Optic Nerve Hypoplasia/Aplasia	Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,...	ORPHA:137902
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Mandibuloacral Dysplasia	Alopecia, Contractures of the large joints, Increased circulating free fatty acid level, Increase...	ORPHA:2457
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Decreased nerve co...	ORPHA:101082
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Neurodegeneration With Brain Iron Accumulation	Retinopathy, Dystonia, Optic atrophy	ORPHA:385
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici...	OMIM:609734
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma, Hypercholesterolemia	OMIM:144010
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Sensory axonal neuropathy, Optic atrophy	ORPHA:329314
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Obesity, Dystonia, Hy...	OMIM:616267
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Retinitis Pigmentosa	Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,...	ORPHA:791
Cystinosis	Retinopathy, Hypokalemia, Hypophosphatemia, Failure to thrive, Corneal opacity	ORPHA:213
Renal Glucosuria	Glycosuria, Polyphagia, Polydipsia	OMIM:233100
Merrf	Multiple lipomas, Optic atrophy	ORPHA:551
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Lipodystrophy, Familial Partial, Type 2	Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Enlarg...	OMIM:151660
Cofs Syndrome	Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp...	ORPHA:1466
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Temple Syndrome	Flexion contracture, Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholes...	OMIM:616222
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I...	ORPHA:280365
Congenital Generalized Lipodystrophy	Increased C-peptide level, Adipose tissue loss, Lipodystrophy, Failure to thrive, Hypercholestero...	ORPHA:528
Macrosomia Adiposa Congenita	Polyphagia, Adrenocortical adenoma	OMIM:248100
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t...	ORPHA:91500
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,...	OMIM:207750
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hirsutism, Action tremor, Hypercholesterolemia, Obesity	ORPHA:77296
Bardet-Biedl Syndrome 20	Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Astigmatism, Hypercholesterolemia, Papi...	OMIM:619471
Smith-Magenis Syndrome	Synophrys, Obesity, Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, ...	ORPHA:819
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Elevated circulating acylcarnitine concentration, Dystonia, Optic atrophy	ORPHA:26792
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Macular h...	ORPHA:91495
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Intention tremor, Cataract, Decre...	OMIM:612674
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma...	OMIM:120200
Retinitis Pigmentosa 46	Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d...	OMIM:612572
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis...	ORPHA:2298
Prune1-Related Neurological Syndrome	Cataract, Retinopathy, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:544469
Megalocornea-Intellectual Disability Syndrome	Megalocornea, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Iridodonesis, Abnormal a...	ORPHA:2479
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo...	ORPHA:300373
Congenital Analbuminemia	Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem...	ORPHA:86816
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypergonadotropic hypogonadism, Neonatal hypoglycemia, Decreased response to growth h...	OMIM:606407
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Riboflavin Transporter Deficiency	Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal c...	ORPHA:97229
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret...	OMIM:620102
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Infantile Refsum Disease	Rod-cone dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Failure to t...	ORPHA:772
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Dent Disease 2	Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration	OMIM:300555
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Failure to th...	OMIM:614877
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Choreoathetosis, Decreased nerve conduction velocity, Optic disc pallor, Intention...	ORPHA:98890
Megalocornea-Mental Retardation Syndrome	Megalocornea, Hypoplasia of the iris, Hypercholesterolemia, Iridodonesis, Low anterior hairline	OMIM:249310
Bardet-Biedl Syndrome 22	Polyphagia, Hypogonadism	OMIM:617119
Hypercalcemia, Infantile, 2	Failure to thrive, Hypophosphatemia, Hypercalcemia	OMIM:616963
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensor...	OMIM:609541
Schaaf-Yang Syndrome	Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Arthrogryposis multipl...	OMIM:615547
Norrie Disease	Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch...	OMIM:310600
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy	OMIM:613862
Bardet-Biedl Syndrome 9	Hyperglycemia, Polyphagia, Polydipsia	OMIM:615986
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Coloboma, Optic atrophy, Elevated circulating creatine kinase concentration, Optic ...	ORPHA:370959
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Retinitis Pigmentosa 26	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:608380
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Multiple jo...	ORPHA:320406
Cog4-Cdg	Failure to thrive in infancy, Thick hair, Hypercholesterolemia	ORPHA:263501
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:423
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Optic atrophy, Elevated circulating creatine kinase concentration, O...	ORPHA:254886
Acrodysostosis With Multiple Hormone Resistance	Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia, Obesity	ORPHA:280651
Pick Disease Of Brain	Disinhibition, Polyphagia	OMIM:172700
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ...	OMIM:160565
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt...	OMIM:609033
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma...	ORPHA:247585
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Polyphagia	ORPHA:177910
Cebalid Syndrome	Congenital diaphragmatic hernia, Polyphagia	OMIM:618774
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d...	OMIM:152950
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Optic disc pallor, Vaginal hernia	ORPHA:3173
Spinocerebellar Ataxia 7	Macular degeneration, Tremor, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Zika Virus Disease	Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro...	ORPHA:448237
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:588
Hsd10 Mitochondrial Disease	Choreoathetosis, Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic at...	OMIM:300438
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness	OMIM:616389
Infantile Nephropathic Cystinosis	Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concentration, Failure to thr...	ORPHA:411629
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma, Optic atrophy	ORPHA:2185
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmentation ...	ORPHA:3214
Wildervanck Syndrome	Low posterior hairline, Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture, Optic atrophy, Elevated circulating creatine k...	OMIM:253800
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Choreoathetosis, Failure to thrive, Aplasia of the left hemidiaphragm, Dystonia	OMIM:618238
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Optic atrophy, Mildly elevated creatine kinase, Peripheral axonal neuropathy, Dys...	ORPHA:401768
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract	ORPHA:272
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail...	OMIM:605814
Dysbetalipoproteinemia	Corneal arcus, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concen...	ORPHA:412
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos...	OMIM:600132
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Huntington Disease	Choking episodes, Agitation, Polyphagia, Disinhibition, Alcoholism, Oral-pharyngeal dysphagia	ORPHA:399
Obesity, Hyperphagia, And Developmental Delay	Polyphagia	OMIM:613886
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Optic atrophy	OMIM:619052
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Small for gestational age, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Hyperlipoproteinemia, Type I	Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ...	OMIM:238600
Retinitis Pigmentosa 28	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:606068
Frontotemporal Dementia	Disinhibition, Polyphagia	OMIM:600274
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea...	ORPHA:457205
Congenital Disorder Of Glycosylation, Type Ie	Knee flexion contracture, Retinopathy, Optic atrophy, Abnormal macular morphology, Camptodactyly,...	OMIM:608799
Harel-Yoon Syndrome	Optic atrophy, Developmental cataract, Peripheral axonal neuropathy, Corneal opacity, Dystonia	OMIM:617183
Ataxia With Vitamin E Deficiency	Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole...	OMIM:277460
Retinitis Pigmentosa 1	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:180100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Increased facial adipose tissue, Flexion contracture, Sparse scalp hair, Calcinosis, Re...	OMIM:248370
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Leber Optic Atrophy And Dystonia	Athetosis, Dystonia, Leber optic atrophy, Optic atrophy	OMIM:500001
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98754
9Q31.1Q31.3 Microdeletion Syndrome	Thick hair, Overweight, Highly arched eyebrow, Hypercholesterolemia	ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia	ORPHA:96184
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma	ORPHA:163937
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc...	OMIM:262190
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Optic atrophy, Retinal dystrophy, Abnormal op...	ORPHA:899
Sitosterolemia 1	Reduced haptoglobin level, Corneal arcus, Elevated circulating sitosterol concentration, Xanthela...	OMIM:210250
Srd5A3-Cdg	Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract, Abnormal hair morph...	ORPHA:324737
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Ca...	OMIM:614643
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia	ORPHA:411515
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177904
Hypotonia-Cystinuria Syndrome	Polyphagia	ORPHA:163690
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177901
Leukodystrophy, Hypomyelinating, 22	Astigmatism, Flexion contracture, Optic disc pallor	OMIM:619328
Pediatric-Onset Graves Disease	Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa...	ORPHA:525731
Refractory Celiac Disease	Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia	ORPHA:398063
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ...	OMIM:615233
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:398073
Chromosome Xq26.3 Duplication Syndrome	Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Increased circ...	OMIM:300942
Mody	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins...	ORPHA:552
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Alg8-Cdg	Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca...	ORPHA:79325
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy	OMIM:615434
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores...	OMIM:616170
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atrophy, Attenuatio...	OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia	OMIM:616521
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia	ORPHA:93160
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Decreased body we...	ORPHA:340
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Optic atrophy, Small for gestational age, Failure to thrive, Hyperammonemia, Dys...	OMIM:614702
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok...	OMIM:616881
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Developmental And Epileptic Encephalopathy 93	Iris coloboma, Optic atrophy	OMIM:618012
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Chondrocalcinosis, Hypercalcemia	ORPHA:99879
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia	OMIM:227810
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Dystonia	ORPHA:79312
Retinitis Pigmentosa 12	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:600105
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Lysosomal Acid Lipase Deficiency	Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero...	OMIM:278000
Alagille Syndrome 1	Posterior embryotoxon, Axenfeld anomaly, Microcornea, Failure to thrive, Cataract, Chorioretinal ...	OMIM:118450
6Q16 Microdeletion Syndrome	Polyphagia	ORPHA:171829
Magel2-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei...	ORPHA:398069
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca...	OMIM:300578
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas...	ORPHA:398079
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,...	OMIM:106210
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology...	ORPHA:1021
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor	OMIM:613730
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia	OMIM:264700
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypophosphatemia, Hypocalcemia	OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Failure to thrive, Hypophosphatemia, Hypophosphatemic...	OMIM:241530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Hyperammonemia, Dystonia, Optic atrophy	ORPHA:289916
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Hypophosphatemia, Alopecia universalis, Failure to thrive, Hypocalcemic seizures	OMIM:277440
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia	OMIM:620085
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Failure to thrive in infancy, Retinopathy, Weight loss, Decreased pl...	OMIM:219800
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:739
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hyperammonemia, Dystonia, Optic atrophy	OMIM:614739
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Triple A Syndrome	Iris coloboma, Optic atrophy, Motor axonal neuropathy	ORPHA:869
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Hyperprolinemia, Optic disc pallor	OMIM:619170
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ...	OMIM:165550
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Optic atrophy, Failure to thrive, Cataract, Hypertrichosis	OMIM:612379
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thrive, Abnormal...	ORPHA:411634
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Marinesco-Sjögren Syndrome	Abnormal circulating creatine kinase concentration, Cataract, Optic atrophy	ORPHA:559
Jaberi-Elahi Syndrome	Sparse eyebrow, Optic atrophy, Brittle hair, Choreoathetosis, Fine hair, Failure to thrive, Catar...	OMIM:617988
2Q23.1 Microdeletion Syndrome	Hyperactivity, Polyphagia	ORPHA:228402
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia	ORPHA:209902
Alport Syndrome 3, Autosomal Dominant	Azotemia, Anterior polar cataract, Hypophosphatemia, Lenticonus	OMIM:104200
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A...	ORPHA:54
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:95433
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride...	OMIM:615812
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Hypercholesterolemia, Hyperaldosteronism, Sparse scalp hair, Lentiglob...	ORPHA:534
Hereditary Fructose Intolerance	Hypophosphatemia, Cataract, Hyperuricemia, Hypermagnesemia	ORPHA:469
Congenital Sialidosis Type 2	Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Developmental cataract,...	ORPHA:93400
Xfe Progeroid Syndrome	Enamel hypoplasia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Cachexia, Attenu...	OMIM:610965
Short Syndrome	Abnormal pupil morphology, Alopecia, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia...	ORPHA:3163
Hyperekplexia 2	Astigmatism, Exaggerated startle response, Hiatus hernia	OMIM:614619
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o...	ORPHA:54595
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Enamel hy...	OMIM:307800
Man1B1-Cdg	Polyphagia	ORPHA:397941
Retinitis Pigmentosa 74	Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy	OMIM:616562
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, H...	ORPHA:363618
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Multiple Endocrine Neoplasia, Type I	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	OMIM:131100
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra...	OMIM:619743
Glucocorticoid Resistance, Generalized	Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Juvenile Sialidosis Type 2	Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Inguinal hernia, Catara...	ORPHA:93399
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont...	OMIM:309000
Juvenile Paget Disease	Hyperuricemia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Colchicine Poisoning	Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc...	ORPHA:31824
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v...	ORPHA:2715
Mitochondrial Complex I Deficiency, Nuclear Type 28	Hyperalaninemia, Optic atrophy, Choreoathetosis, Failure to thrive, Optic neuropathy, Optic disc ...	OMIM:618249
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:370
Cinca Syndrome	Papilledema, Elevated circulating C-reactive protein concentration, Uveitis	OMIM:607115
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ...	OMIM:535000
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:600740
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype...	ORPHA:264580
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, Optic dis...	ORPHA:423479
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C...	ORPHA:585
Mevalonic Aciduria	Attenuation of retinal blood vessels, Elevated circulating creatine kinase concentration, Failure...	OMIM:610377
Trisomy 18P	Attention deficit hyperactivity disorder, Polyphagia	ORPHA:1715
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor...	OMIM:614736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Elevated circulating creatine kinase conc...	OMIM:236670
Birk-Landau-Perez Syndrome	Optic atrophy, Choreoathetosis, Hyperkalemia, Long eyelashes, Dystonia, Increased circulating cre...	OMIM:617595
Gangliocytoma	Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph...	ORPHA:251937
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Pearson Syndrome	Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Corneal stromal edema,...	ORPHA:699
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ...	OMIM:617301
Oculo-Palato-Cerebral Syndrome	Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia	ORPHA:289157
Prader-Willi Syndrome	Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre...	OMIM:176270
Trichothiodystrophy 4, Nonphotosensitive	Trichorrhexis nodosa, Optic atrophy, Brittle hair, Keratoconjunctivitis sicca, Microcornea, Wooll...	OMIM:234050
Wolfram Syndrome 1	Cataract, Tremor, Pigmentary retinopathy, Optic atrophy	OMIM:222300
Incontinentia Pigmenti	Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Retinal vascular proliferation, Optic at...	OMIM:308300
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Polyphagia, Abnormal dental enamel morphology	ORPHA:251004
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hypophosphatemia, Hip contracture, Hypercalcemia	OMIM:156400
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Rod-cone dystrophy, Weight loss, Opisthotonus, Optic disc pallor, Pigmentar...	ORPHA:216866
Cockayne Syndrome Type 1	Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Abnormality of peripheral nerve conduc...	ORPHA:90321
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Failure to thrive, Athetosis, Limb joint contracture, Craniofacial ...	OMIM:617282
Fanconi-Bickel Syndrome	Failure to thrive, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina...	ORPHA:2969
Atypical Werner Syndrome	Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas...	ORPHA:79474
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Maternal Uniparental Disomy Of Chromosome 4	Decreased LDL cholesterol concentration, Rod-cone dystrophy, Decreased body weight, Optic atrophy...	ORPHA:96180
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr...	ORPHA:3205
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia	OMIM:617864
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia	OMIM:610644
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Mildly elevated creatine kinase, Tremor, Lipoma, Optic disc pallor, Pigmentary retinopathy, Thick...	ORPHA:502423
Keppen-Lubinsky Syndrome	Flexion contracture, Decreased serum leptin, Generalized lipodystrophy, Lack of facial subcutaneo...	OMIM:614098
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Large for gestational age, Hypouricemia	OMIM:616026
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch...	ORPHA:90674
Familial Dysautonomia	Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,...	ORPHA:1764
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Ocular albinism, Albinism, Silver-gray hair, Astigmatism, Hypoplas...	OMIM:614077
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Abnormality of peripheral nerve conduction, Weight loss, Transient hypophos...	ORPHA:79102
Jalili Syndrome	Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam...	ORPHA:1873

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Gene: Apmap MGI:1919131

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IMPC Phenotype Summary

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lacZ Expression

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Auditory Brain Stem Response

Human diseases caused by Apmap mutations