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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
abnormal optic disk morphology	Apmap^em1(IMPC)J	HOM	Late adult	7.27×10^-05
abnormal vibrissa morphology	Apmap^em1(IMPC)J	HOM	Late adult	9.87×10^-07
decreased grip strength	Apmap^em1(IMPC)J	HOM	Late adult	6.99×10^-06
increased circulating HDL cholesterol level	Apmap^em1(IMPC)J	HOM	Late adult	7.44×10^-07
abnormal vitreous body morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.68×10^-05
iris synechia	Apmap^em1(IMPC)J	HOM	Late adult	1.04×10^-07
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	5.68×10^-05
increased circulating phosphate level	Apmap^em1(IMPC)J	HOM	Late adult	2.31×10^-07
abnormal lens morphology	Apmap^em1(IMPC)J	HOM	Late adult	2.66×10^-05
increased total body fat amount	Apmap^em1(IMPC)J	HOM	Late adult	2.98×10^-05
increased circulating alanine transaminase level	Apmap^em1(IMPC)J	HOM	Late adult	2.28×10^-07
decreased lean body mass	Apmap^em1(IMPC)J	HOM	Late adult	1.49×10^-05
abnormal retina blood vessel morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.68×10^-05
abnormal retina vasculature morphology	Apmap^em1(IMPC)J	HOM	Late adult	5.68×10^-05
abnormal startle reflex	Apmap^em1(IMPC)J	HOM	Late adult	9.28×10^-05

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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 (631 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
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal diabetes, Reactive hypoglyce...	ORPHA:324575
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures...	ORPHA:276580
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract	OMIM:146200
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Increa...	OMIM:615238
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystoni...	ORPHA:36913
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Small for gestational age, Developmental cataract, Retin...	OMIM:127000
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Pseudohypoparathyroidism, Type Ic	Cataract, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:612462
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris colo...	ORPHA:2611
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia	OMIM:222100
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme...	OMIM:613154
Pseudohypoparathyroidism, Type Ia	Cataract, Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:103580
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,...	OMIM:239000
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia	OMIM:618406
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Polyphagia, Increased serum leptin	OMIM:617885
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia	OMIM:620195
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hyperphosphat...	OMIM:211900
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H...	OMIM:262400
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Ename...	ORPHA:94089
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin	OMIM:614962
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Sanjad-Sakati Syndrome	Corneal opacity, Abnormal dental enamel morphology, Hyperphosphatemia, Astigmatism, Hypocalcemia	ORPHA:2323
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Developmental cataract, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetan...	ORPHA:93325
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Autosomal Dominant Hypocalcemia	Alopecia, Writer's cramp, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Sympathetic Ophthalmia	Papilledema, Alopecia, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin...	ORPHA:79098
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Recurrent hypoglycemia...	ORPHA:254516
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hyperphosphatemia, Optic atrophy, Blue irides	OMIM:101800
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Striatonigral Degeneration, Infantile	Choreoathetosis, Failure to thrive, Optic atrophy, Dystonia	OMIM:271930
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic teta...	ORPHA:79444
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Calciphylaxis	Hyperphosphatemia, Cellulitis	ORPHA:280062
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Obesity, Choreoathetosis, Hyperphosphatemia, Conjunctivit...	ORPHA:79443
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,...	ORPHA:170
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di...	OMIM:619389
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Neuroleptic Malignant Syndrome	Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype...	ORPHA:94093
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Postural tremor, Retinal telangiectasia	ORPHA:104
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Spastic Paraplegia 5A, Autosomal Recessive	Abnormal circulating cholesterol concentration, Optic atrophy, Postural tremor, Cataract	OMIM:270800
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Tremor, Optic atrophy, Premature graying of hair, Abnormal optic nerve ...	ORPHA:33445
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Congenital Disorder Of Glycosylation, Type Iaa	Attenuation of retinal blood vessels, Optic disc pallor, Failure to thrive, Hypertrichosis	OMIM:617082
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Colobo...	ORPHA:1617
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Merrf	Multiple lipomas, Optic atrophy	ORPHA:551
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Arthrogryp...	ORPHA:1466
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Decreased nerve...	ORPHA:101082
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cystinosis	Corneal opacity, Hypokalemia, Hypophosphatemia, Failure to thrive, Retinopathy	ORPHA:213
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co...	OMIM:612674
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
14Q11.2 Microduplication Syndrome	Hypothyroidism, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Tremor, Abnormality of macular ...	ORPHA:97229
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607250
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Schaaf-Yang Syndrome	Impulsivity, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arthrogryposis multi...	OMIM:615547
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Optic atrophy, Dystonia	ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Prune1-Related Neurological Syndrome	Retinopathy, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:544469
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy, Sensory axon...	OMIM:609541
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	OMIM:606407
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Intention...	ORPHA:98890
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia	OMIM:617119
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha...	ORPHA:399
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Infantile Refsum Disease	Failure to thrive, Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid conc...	ORPHA:772
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Dent Disease 2	Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Bardet-Biedl Syndrome 9	Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	ORPHA:370959
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Optic atrophy, Limb tremor, Elevated circulating phytanic acid conce...	OMIM:614877
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Tremor, Decre...	OMIM:208920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Galactokinase Deficiency	Cataract, Small for gestational age, Increased level of galactitol in plasma, Nuclear cataract, H...	ORPHA:79237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F...	OMIM:609033
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Vaginal hernia	ORPHA:3173
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Spinocerebellar Ataxia 7	Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy, Low posterior hairline	ORPHA:3456
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Polyphagia	ORPHA:177910
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia	ORPHA:272
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Intention tremor	OMIM:620221
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma,...	ORPHA:3214
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentration, Op...	ORPHA:254886
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Choreoathetosis, Aplasia of the left hemidiaphragm, Dystonia, Failure to thrive	OMIM:618238
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Hsd10 Mitochondrial Disease	Choreoathetosis, Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degener...	OMIM:300438
Myopathy, Tubular Aggregate, 1	Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ...	OMIM:160565
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Hemidystonia	OMIM:619052
Infantile Cerebellar-Retinal Degeneration	Retinal dystrophy, Optic atrophy, Athetosis, Decreased body weight, Failure to thrive	OMIM:614559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ...	OMIM:253800
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:588
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Dystonia	OMIM:617183
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Optic atrophy, Dystonia, Mildly elevated creatine k...	ORPHA:401768
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thrive	ORPHA:163937
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Optic atrophy, Dystonia, Abnormal pe...	ORPHA:457205
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Leber Optic Atrophy And Dystonia	Athetosis, Optic atrophy, Leber optic atrophy, Dystonia	OMIM:500001
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism, Flexion contracture	OMIM:619328
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Joint contracture, Cataract, Optic atrophy	OMIM:617481
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F...	ORPHA:398069
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Rod-cone dyst...	ORPHA:324737
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Synophrys, Increased body weight, Hypercholesterolemia	OMIM:182290
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
6Q16 Microdeletion Syndrome	Polyphagia, Abnormal temper tantrums	ORPHA:171829
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Join...	OMIM:616881
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hypotonia-Cystinuria Syndrome	Polyphagia	ORPHA:163690
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo...	ORPHA:398079
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Isolated Atp Synthase Deficiency	Cataract, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Rod-cone dystrophy	ORPHA:254913
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Alg8-Cdg	Hyponatremia, Cataract, Small for gestational age, Abnormality of subcutaneous fat tissue, Optic ...	ORPHA:79325
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we...	ORPHA:340
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Bardet-Biedl Syndrome 20	Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy...	OMIM:619471
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to t...	OMIM:614702
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Synophrys, Obesity, Micro...	ORPHA:819
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to thrive	OMIM:614739
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hyperammonemia, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Familial Isolated Hyperparathyroidism	Hypercalcemia, Chondrocalcinosis, Hypophosphatemia	ORPHA:99879
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Low anterior hairline, Hypertrichosis, ...	ORPHA:528
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia	OMIM:620085
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Coloboma, Failure to thrive, Hypertrichosis	OMIM:612379
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca...	OMIM:616222
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism, Action tremor	ORPHA:77296
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Tremor, Optic atrophy, Fine hair, Chore...	OMIM:617988
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat...	OMIM:608804
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	OMIM:264700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Optic atrophy, Hyperammonemia, Dystonia	ORPHA:289916
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Failure to thrive, Hypophos...	OMIM:241530
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ...	OMIM:219800
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long...	OMIM:617523
Hyperekplexia 2	Exaggerated startle response, Astigmatism, Hiatus hernia	OMIM:614619
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a...	ORPHA:2479
Marinesco-Sjögren Syndrome	Abnormal circulating creatine kinase concentration, Optic atrophy, Cataract	ORPHA:559
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Developmental...	ORPHA:93400
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Self-injurio...	ORPHA:72
Short Syndrome	Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Inguinal her...	ORPHA:3163
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Woods Syndrome	Lingual dystonia, Frontal hirsutism, Optic atrophy, Supernumerary nipple	OMIM:615236
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Generalized hypertri...	ORPHA:93399
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Inguinal hernia, Cataract, Corneal opacity, Hypoammonemia, Chori...	ORPHA:534
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Man1B1-Cdg	Polyphagia	ORPHA:397941
Neuhauser Syndrome	Iridodonesis, Low anterior hairline, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea	OMIM:249310
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem...	OMIM:227810
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypoalbuminemia, Enamel h...	OMIM:610965
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Mepan Syndrome	Axial dystonia, Limb dystonia, Hemidystonia, Optic atrophy, Dystonia, Failure to thrive, Craniofa...	ORPHA:508093
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Optic atrophy, Coa...	ORPHA:585
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Elbow flexion ...	OMIM:617301
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Elevated hemoglobin A...	OMIM:616113
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Enamel hypomineralization, ...	OMIM:307800
Warburg Micro Syndrome 3	Cataract, Flexion contracture, Optic atrophy, Low anterior hairline, Developmental cataract, Micr...	OMIM:614222
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Optic atrophy, Choreoathetosis, Hyperalaninemia, Failure to ...	OMIM:618249
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin...	OMIM:236670
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Optic atrophy, Microcornea, Keratoco...	OMIM:234050
Birk-Landau-Perez Syndrome	Dystonia, Failure to thrive in infancy, Optic atrophy, Hyperkalemia, Choreoathetosis, Long eyelas...	OMIM:617595
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re...	OMIM:617282
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Alopecia, Cataract, Scarring, Supernumerary nipple, ...	OMIM:308300
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia	ORPHA:2801
Wolfram Syndrome 1	Tremor, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:222300
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Rod-c...	ORPHA:216866
Pearson Syndrome	Cataract, Small for gestational age, Steatorrhea, Hypophosphatemia, Corneal stromal edema, Pigmen...	ORPHA:699
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Mevalonic Aciduria	Optic disc pallor, Cataract, Failure to thrive in infancy, Elevated circulating creatine kinase c...	OMIM:610377
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Orthostatic hypotension, Hypertr...	OMIM:606721
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis, Su...	ORPHA:2969
Cinca Syndrome	Papilledema, Uveitis, Elevated circulating C-reactive protein concentration	OMIM:607115
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology, Delayed puberty	ORPHA:251004
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Joint contracture, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia	OMIM:617864
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract, Limb joint contracture	OMIM:620327
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy, Thick hair	ORPHA:263501
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	ORPHA:289157
Atypical Werner Syndrome	Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab...	ORPHA:79474
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Vestibular areflexia, Optic atrophy, Intention tremor	ORPHA:504476
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes...	ORPHA:1873
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Foot joint contracture, Scarring, Tremor, Optic at...	ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia	OMIM:156400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Tremor, Pigmentary retinopathy, Lipoma, Mildly elevated creatine k...	ORPHA:502423
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula...	OMIM:614077
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio...	ORPHA:1764
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Warburg Micro Syndrome 2	Cataract, Flexion contracture, Optic atrophy, Low anterior hairline, Developmental cataract, Micr...	OMIM:614225
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Hypophosphatemia	OMIM:616026
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni...	ORPHA:845
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes ins...	ORPHA:293987
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Fanconi-Bickel Syndrome	Failure to thrive, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Oncogenic Osteomalacia	Neurofibroma, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Hyperparathyroidism, Neonatal Severe	Calcinosis, Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:239200
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Hyp...	ORPHA:79102
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Enamel hypopl...	OMIM:618727
Secondary Short Bowel Syndrome	Polyphagia, Primary hypothyroidism, Central hypothyroidism	ORPHA:95427
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro...	OMIM:248370
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Elevated circulating creatine kinas...	OMIM:614298
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ...	ORPHA:96180
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Pantothenate Kinase-Associated Neurodegeneration	Dystonia, Abetalipoproteinemia, Bull's eye maculopathy, Rod-cone dystrophy, Optic atrophy, Leg dy...	ORPHA:157850
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Anisocoria, Abnorma...	OMIM:231550
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Tremor, Developmental glaucoma, Optic ...	ORPHA:99956
Luscan-Lumish Syndrome	Polyphagia, Aggressive behavior	OMIM:616831
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Failure ...	ORPHA:521426
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Tremor, Hypocalcemia, Hypophosphatemia, Optic nerve compression	ORPHA:667
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Rett Syndrome	Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Increased serum leptin	ORPHA:778
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Hiatus hernia, Optic atrophy, Hypoplasia of the iris, Hypoal...	OMIM:251300
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Corneal ...	OMIM:210250
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity	ORPHA:96184
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Flexion contracture	OMIM:618201
Wagro Syndrome	Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior	OMIM:612469
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnormal t...	ORPHA:404448
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Xanthelasma, Abnormal circulating cholesterol concentration, Abnorma...	OMIM:213700
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Thick hair, Highly arched eyebrow	ORPHA:401923
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Abnormal optic disc morphology, Decreased corneal thickness, Congenital st...	ORPHA:293967
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arter...	OMIM:175780
Alagille Syndrome 1	Posterior embryotoxon, Hypertriglyceridemia, Cataract, Failure to thrive, Band keratopathy, Chori...	OMIM:118450
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Failure to thrive,...	OMIM:617527
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Development...	OMIM:618651
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy, Long eyelashes, Thick eyebrow	OMIM:617281
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Failure to thrive, Hypoasparaginemia	OMIM:615574
Cockayne Syndrome	Dry hair, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degenerat...	ORPHA:191
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Dent Disease	Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Failure to thrive, Small for gestational age, Limb jo...	ORPHA:404454
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Postural tremor, Posterior cortical cata...	ORPHA:67036
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal peripheral mye...	OMIM:133540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase co...	OMIM:618775
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Dent Disease 1	Hypophosphatemia	OMIM:300009
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Cataract, Abnormal dental enamel morphology, Camptod...	ORPHA:2710
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Retinal arteriolar tortuos...	OMIM:230740
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph...	ORPHA:2526
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Retinal atrophy, Cataract, Abnorm...	OMIM:216400
Raine Syndrome	Arthrogryposis multiplex congenita, Enamel hypoplasia, Highly arched eyebrow, Hypophosphatemia	OMIM:259775
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia, Cherry red spot of t...	ORPHA:79255
Classic Homocystinuria	Retinal detachment, Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Ectopia len...	ORPHA:394
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Retinal atrophy, Retinal dystrophy, Peripheral axonal neuropathy, Ca...	ORPHA:90324
Mccune-Albright Syndrome	Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia	ORPHA:562
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia	ORPHA:249
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Neuroocular Syndrome	Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Cataract, Highly ...	OMIM:619539
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Parathyroid Carcinoma	Hypercalcemia, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:143
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Optic atrophy, Head tremor	ORPHA:314404
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s...	ORPHA:405
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c...	ORPHA:3337
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Orthostatic hypotension	OMIM:268800
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P...	ORPHA:363618
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Hypercalcemia, Chondrocalcinosis, Hypophosphatemia	ORPHA:99880
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi...	OMIM:603671
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri...	ORPHA:90674
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Decreased body weight, Hypertrichosis	OMIM:266270
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Developmental c...	OMIM:300166
X-Linked Hypophosphatemia	Cellulitis, Enthesitis, Odontodysplasia, Hypophosphatemia	ORPHA:89936
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive	OMIM:229600
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Sparse hair...	OMIM:619869
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy	OMIM:610644
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Hyp...	ORPHA:1606
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Enthesitis	ORPHA:289176
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Failure to thrive,...	ORPHA:416
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Obesity	ORPHA:69663
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Polyphagia, Dysphagia, Congenital hypothyroidism, C...	OMIM:607872
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Abdomina...	OMIM:619321
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Retinal dystrophy, Supernumerary nipple, Subretinal deposits, Abnormal optic disc morphology, Fai...	ORPHA:397715
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Leptospirosis	Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macu...	ORPHA:509
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia, Uterine prolapse...	ORPHA:438213
Steinert Myotonic Dystrophy	Alopecia, Peripheral axonal neuropathy, Early balding, Posterior subcapsular cataract, Facial dip...	ORPHA:273
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t...	ORPHA:79259
Alström Syndrome	Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precocious puberty ...	ORPHA:64
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology	ORPHA:91387
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Thick eyebrow	OMIM:618367
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele...	OMIM:619534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Apmap

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Apmap.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The APMAP interactome reveals new modulators of APP processing and beta-amyloid production that are altered in Alzheimer's disease.	Acta neuropathologica communications (January 2019)	Apmap^{tm1a(KOMP)Wtsi}	PMC6354426

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Apmap^em1(IMPC)J	Exon Deletion	Mice
Apmap^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apmap^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apmap^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Apmap^{tm44207(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Apmap MGI:1919131

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Apmap mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data