Gene Summary

Name:
apolipoprotein E
Synonyms:
Apoe

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Apoetm1Unc HOM Early adult 0.00
increased circulating alkaline phosphatase level Apoetm1Unc HOM Early adult 6.31×10-13
decreased circulating serum albumin level Apoetm1Unc HOM Early adult 3.72×10-05
increased circulating triglyceride level Apoetm1Unc HOM Early adult 2.29×10-21
increased circulating bilirubin level Apoetm1Unc HOM Early adult 9.70×10-10
abnormal tooth morphology Apoetm1Unc HOM Early adult 2.51×10-07
abnormal glucose homeostasis Apoetm1Unc HOM   Early adult 6.84×10-07
increased circulating LDL cholesterol level Apoetm1Unc HOM Early adult 0.00
decreased circulating glucose level Apoetm1Unc HOM Early adult 1.78×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

14 Images

Eye Morphology

VIP of left eye

9 Images

Eye Morphology

VIP of left fundus

9 Images

Eye Morphology

VIP of right eye

9 Images

Legacy Phenotype Associated Images

View all 199 images

Human diseases caused by Apoe mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Xanthomatosis, Susceptibility To
Xanthomatosis, Hypercholesterolemia OMIM:602247
Internal Carotid Artery, Spontaneous Dissection Of
Extracranial internal carotid artery dissection OMIM:147820
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... OMIM:603813
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis, Xanthelasma, Increased LDL cholesterol concentration, Hyperchole... OMIM:144010
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Hypercholesterolemia, Familial, 3
Xanthelasma, Tendon xanthomatosis, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis, Tendon xanthomatosis, Increased LDL cholesterol concentration, X... OMIM:143890
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... OMIM:144300
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:604091
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Decreased HD... ORPHA:425
Arterial Dissection With Lentiginosis
Arterial dissection, Cystic medial necrosis OMIM:600459
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... OMIM:620058
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atheroeruptive xanthoma, Precocio... OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atheroeruptive xanthoma, Precocio... OMIM:145750
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Tendon xantho... OMIM:618463
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hypotrichosis 5
Alopecia, Sparse eyelashes, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Sparse body hair ORPHA:55654
Dysbetalipoproteinemia
Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Increased LDL cholestero... ORPHA:412
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes, Uncombable hair OMIM:146550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Foam cells OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Decreased serum complement C8 OMIM:613790
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Decreased HDL... OMIM:615703
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Premature coronary artery atherosclerosis, Increased HDL cholesterol concen... ORPHA:140905
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis, Papule ORPHA:91135
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Foam cells with... OMIM:607616
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Arteriosclerosis, Hypercholesterolemia ORPHA:75234
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia, Insulin-resistant diabetes mellitus, Malar prominence ORPHA:436182
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Everted lower lip vermilion, Delayed eruption of teeth, Hypoglycemia, ... ORPHA:181393
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis,... OMIM:277460
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... OMIM:618620
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Lcat Deficiency
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... ORPHA:650
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Dermal atrophy, Alope... OMIM:617294
Sitosterolemia 1
Tuberous xanthoma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xant... OMIM:210250
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Lysosomal Acid Lipase Deficiency
Stroke, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, We... ORPHA:275761
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Hepatomegaly, Absent isohemagglutinin leve... OMIM:615559
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Schimke Immuno-Osseous Dysplasia
Stroke, Pancreatitis, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Short neck, Abnorma... ORPHA:1830
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse axillary hair, Sparse body hair, Sparse eyelashes, Sparse pub... OMIM:605389
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, U-Shaped upper lip vermilion OMIM:129850
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Sparse eyebrow, Alopecia, Sparse body hair, Coarse h... ORPHA:3361
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Aortic atherosclerotic lesion, Accelerated atheroscleros... ORPHA:209902
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Hepatomegaly, Pancreatitis, Osteopenia, Gout, Hepatocellular adeno... ORPHA:79259
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity, Decreased serum complement factor I OMIM:613652
Griscelli Syndrome Type 1
Hyperlipidemia, Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, ... ORPHA:79476
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Foam cells, Decreased pro... OMIM:619802
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus OMIM:610717
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Complement Component C1S Deficiency
Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Gout, Enlarged kidney, Proteinu... OMIM:232220
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Otitis media, Hyperuricemia, Progressiv... OMIM:203800
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus OMIM:613791
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Rheumatoid factor positive, ... ORPHA:1304
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Alopecia, Slow-... ORPHA:189
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia OMIM:612526
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate... OMIM:232200
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis, Apathy, Stroke, Pseudobulbar paralysis, Cognitive impairment, Mental deteriorat... ORPHA:199354
Schimke Immunoosseous Dysplasia
Bulbous nose, Stroke, Osteopenia, Depressed nasal bridge, Platyspondyly, Short neck, Ovoid verteb... OMIM:242900
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Coronary artery stenosis, Truncal obesity, Hypercholesterolemia OMIM:615812
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance OMIM:617885
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abno... ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Folliculitis, Recurrent skin infections, I... OMIM:300635
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Cerebrotendinous Xanthomatosis
Angina pectoris, Cholelithiasis, Tuberous xanthoma, Cerebral atrophy, Abnormality of central soma... OMIM:213700
Temple Syndrome
High palate, Cleft palate, Maturity-onset diabetes of the young, Micrognathia, Short philtrum, Bi... OMIM:616222
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Fish-Eye Disease
Decreased HDL cholesterol concentration, Atherosclerosis ORPHA:79292
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... ORPHA:1008
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis ORPHA:2724
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Tangier Disease
Ectropion, Cicatricial ectropion, Decreased HDL cholesterol concentration, Atherosclerosis, Coron... OMIM:205400
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Erdheim-Chester Disease
Dysuria, Osteomyelitis, Increased bone mineral density, Abnormal pericardium morphology, Skin ras... ORPHA:35687
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Brain atrophy, Short neck, Enlarged kidney, Optic atrophy, Lo... OMIM:617303
Sea-Blue Histiocyte Disease
Absent axillary hair, Foam cells OMIM:269600
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Angioid streaks of the fundus, Atherosclerosis, Yellow papule, Retinal peau d'orange OMIM:610842
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia, Hypoglycemia, Hypercholeste... ORPHA:633
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, H... OMIM:615558
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Recurrent respiratory infections, Hyperuricemia ORPHA:364
Flynn-Aird Syndrome
Ataxia, Abnormality of the thyroid gland, Type II diabetes mellitus, Primary adrenal insufficienc... ORPHA:2047
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Difficulty walking, Choking episodes, Br... ORPHA:399
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic... OMIM:603909
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Xanthomatosis, Glomerulopathy, Apla... ORPHA:2348
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Apathy, Inappropriate sexual behavior, Frontotemporal dementia, Fr... OMIM:600274
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Hypoglycemic seizures OMIM:609734
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Micrognathia, Cleft lip, Hypoalbuminemia, Hypercholesterolemia, Smooth... OMIM:616730
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Premature coronary artery atherosclerosis, Decreased HDL cholesterol concen... OMIM:615947
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Schnitzler Syndrome
Macule, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Vasc... ORPHA:37748
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Increased circulating IgG lev... OMIM:610163
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Micrognathia, Hypoglycemia, Increased serum iron ORPHA:446
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, M... OMIM:617575
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Immunodeficiency 23
Vasculitis in the skin, Eczema, Abscess, Rheumatoid factor positive, Aortic root aneurysm, Scolio... OMIM:615816
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Skin appendage neoplasm, Cylindroma, Skin nodule, Skin-col... ORPHA:79493
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Peripheral arterial stenosis, Premature arteriosclerosis, Premature coronary ar... ORPHA:391665
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Recurrent upper respiratory tract infectio... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... OMIM:308240
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Cirrhosis... ORPHA:79083
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Complement Component C1R/C1S Deficiency
Complement deficiency, Autoimmunity OMIM:216950
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Maturity-onset diabetes of the young, Micrognathia, Short philtrum, Hypercholesterol... ORPHA:254531
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Simple Cryoglobulinemia
Stroke, Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positiv... ORPHA:91139
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Down... OMIM:616828
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Total anomalous pulmonary venous return, Atheroscler... ORPHA:494424
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Long eyelashes, Long eyebrows, Central heterochromia OMIM:275400
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... OMIM:618534
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level, Vasculitis in the skin ORPHA:90159
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
4H Leukodystrophy
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Mental deterioration, H... ORPHA:289494
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Hepatomegaly, Pancreatitis, Acroosteolysis of distal phalanges (feet... ORPHA:280365
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Legius Syndrome
Nephrolithiasis, Multiple cafe-au-lait spots, Male urethral meatus stenosis, Cognitive impairment... ORPHA:137605
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis, Skin rash OMIM:603552
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Candidiasis, Familial, 1
Alopecia OMIM:114580
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Osteopenia, Prolonged QT interval, Decreased circulating IgA leve... OMIM:613327
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Endocardial Fibroelastosis
Cryptorchidism, Cognitive impairment, Anterior hypopituitarism, Seizure ORPHA:2022
Mandibuloacral Dysplasia
High palate, Glucose intolerance, Abnormal tongue morphology, Hyperinsulinemia, Dental crowding, ... ORPHA:2457
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Brain atrophy, Short neck, Heparan sulfate excretion in... ORPHA:505248
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hy... OMIM:616834
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Sensorineural hearing impairment, Abnormal mitral valve morphology, Nephrotic syndrome, Cerebral ... ORPHA:1192
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Microdontia, Downturned corners of mouth, Hypoalbuminemia OMIM:618347
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevated circu... OMIM:619632
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Foam cells, Bronchiectasis, Hypoxemia OMIM:604809
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Bronchiolitis, Recurrent otitis media, Recurrent respir... OMIM:615993
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Platyspondyly, B lymph... OMIM:102700
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, I... OMIM:618348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Osteopenia, ... ORPHA:369
Werner Syndrome
Slender build, Joint stiffness, Telangiectasia of the skin, Type II diabetes mellitus, Abnormalit... ORPHA:902
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Action tremor, Abnormality of the thyroid gland, Cognitive i... ORPHA:77296
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Erysipelas, Conjugated hyperbilirubinemia OMIM:214900
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Vexas Syndrome
Sensorineural hearing impairment, Nasal chondritis, Inflammatory abnormality of the skin, Elevate... OMIM:301054
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Patent ductus... OMIM:615147
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Panhypophysitis
Polydipsia, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ... ORPHA:95513
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczema OMIM:177000
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Papule, Abnormality of the nail, ... ORPHA:129
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Depression, Mental deterioration, Anxiety, Adrenal hyperpla... OMIM:219080
Takayasu Arteritis
Myocardial infarction, Increased inflammatory response, Skin ulcer, Weight loss, Abnormal endocar... ORPHA:3287
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Brittle hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Hyperlipoproteinemia, Abnormal circulating lipid concentration, Aplasia/Hypoplasia of the skin, A... ORPHA:1979
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Hypocholesterolemia, Carotid artery stenosis, ... ORPHA:31150
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Glycogen Storage Disease Iii
Hyperlipidemia, Malar flattening, Thin vermilion border, Elevated circulating creatine kinase con... OMIM:232400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Insulin-resistant diabetes mellitus ORPHA:79085
Clouston Syndrome
Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Sparse eyelashes, Brittle hair, Absent pub... OMIM:129500
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Diabetic ketoacidosis OMIM:615238
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Anetoderma, Dermal atrophy, Macular atrophy OMIM:250450
Schwartz-Jampel Syndrome
Apnea, Abnormally ossified vertebrae, Overfolded helix, Abnormality of the ureter, Short neck, Pl... ORPHA:800
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Sepsis, Re... ORPHA:247691
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Irritability, Cherry red spot of the mac... OMIM:257200
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Joint stiffness, Kyphosis, Decreased cervical spine flexion due to c... ORPHA:98855
Isolated Biliary Atresia
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Prolonged neo... ORPHA:30391
Boutonneuse Fever
Macule, Petechiae, Skin detachment, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema,... ORPHA:83313
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Increased circulating chylomicron concentration, ... OMIM:238600
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Pancreatitis, Decreased glomerular fi... ORPHA:470
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Osteolysis, Pneumonia, Pericarditis, Urticarial plaq... ORPHA:228123
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Listeriosis
Respiratory distress, Stroke, Abscess, Myocarditis, Pneumonia, Pericarditis, Respiratory failure,... ORPHA:533
Pick Disease Of Brain
Apathy, Frontotemporal dementia, Emotional blunting, Polyphagia, Disinhibition, Inappropriate lau... OMIM:172700
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, A... OMIM:619220
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Depression, Adrenal hyperplasia, Primary hypercortisolism, ... OMIM:615830
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... OMIM:204200
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Decreased serum leptin, Abnormal eating behavior, P... OMIM:614962
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation, Retinal degeneration OMIM:225755
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Excessive wrinkled skin, Lack of skin elasticity, Su... ORPHA:758
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Peritonitis, Abnormality of the lowe... ORPHA:679
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Downturned corners of mouth OMIM:307030
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Optic atrophy, Abnormal myocardium morpho... ORPHA:324
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... OMIM:232240
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... ORPHA:3261
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypokalemia, Focal impaired awareness seizure, Intracranial hemorrhage, Athetosis, Ad... ORPHA:369929
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Narrow mouth, Micrognathia, Hypertriglyceridemia, Diabetes mellitus, Insulin res... OMIM:615381
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Recurrent upper respir... OMIM:616784
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration, Ptosis OMIM:311000
Stuve-Wiedemann Syndrome 1
Apnea, Short neck, Short nose, Pulmonary hypoplasia, Ovoid vertebral bodies, Contracture of the p... OMIM:601559
Alg12-Cdg
Abnormal pinna morphology, Muscular ventricular septal defect, B lymphocytopenia, Complete or nea... ORPHA:79324
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Central adrenal insufficiency, Hypogonadism, Central diabetes in... ORPHA:91349
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia, Macroglossia ORPHA:79320
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Macroglossia, Increased C-peptide level, Hypertriglyceridemia, Diabetes mellitu... ORPHA:528
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Kerion Celsi
Alopecia ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Stroke, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemol... ORPHA:444463
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Recurrent upper respiratory... OMIM:233600
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis, Alopecia OMIM:176670
Cockayne Syndrome
Hepatomegaly, Retinal degeneration, Abnormal renal physiology, Mental deterioration, Retinal dyst... ORPHA:191
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
H Syndrome
Enlarged kidney, Abnormal cardiovascular system physiology, Osteolysis, Facial telangiectasia, Mi... ORPHA:168569
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Alopecia, Milia, Nail dystrophy, Hyperkeratotic papule, Sp... ORPHA:79397