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Gene: Cx3cr1 MGI:1333815

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Gene Summary

Name:
C-X3-C motif chemokine receptor 1
Synonyms:
N/A

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Cx3cr1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Cx3cr1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cx3cr1em1(IMPC)Mbp HOM Early adult 0.00
abnormal caudal vertebrae morphology Cx3cr1em1(IMPC)Mbp HOM   Early adult 1.19×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cx3cr1 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.

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

The table below shows human diseases predicted to be associated to Cx3cr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... OMIM:209920
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluores... OMIM:204200
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Lymphopenia, Eczema, Oligoarthritis, Persisten... OMIM:619510
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce... OMIM:256730
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Ataxia, Limb tremor, Brain atrophy, S... OMIM:614877
Immunodeficiency 102
Severe varicella zoster infection, Leukopenia, Decreased circulating IgG level, Partial absence o... OMIM:301082
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules OMIM:619445
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ... OMIM:243700
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... OMIM:256731
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Unusual CNS infection, ... ORPHA:447788
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportio... OMIM:619802
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Autoimm... OMIM:615559
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic... OMIM:245200
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Progressive spas... ORPHA:280234
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Congenital Glaucoma
Retinal detachment ORPHA:98976
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity, Paraplegia, Optic neuritis, Neuronal loss in central nervous syst... ORPHA:71211
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Intracranial hemorrhage, ... ORPHA:2481
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Allergic rhinitis, ... OMIM:256500
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Diarrhea 9
Villous atrophy OMIM:618168
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Nephronophthisis 15
Retinal degeneration OMIM:614845
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Vi... ORPHA:1163
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy OMIM:520000
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia,... OMIM:616050
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Leukopenia, T lym... ORPHA:443811
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Iris coloboma, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Abetalipoproteinemia
Ataxia, Acanthocytosis, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degener... OMIM:200100
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Rift Valley Fever
Uveitis, Increased circulating IgG level, Decerebrate rigidity, Infectious encephalitis, Abnormal... ORPHA:319251
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Blepharitis OMIM:614328
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Cerebral Cavernous Malformations
Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation OMIM:116860
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Ataxia, Parkinsonism, Paralysis, Paraparesis, Int... ORPHA:140989
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Sneddon Syndrome
Antiphospholipid antibody positivity, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, De... OMIM:182410
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Hepatosplenomegaly, Recu... OMIM:618261
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse... ORPHA:90064
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Rec... OMIM:609033
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Para... ORPHA:36382
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, I... ORPHA:276
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Coloboma Of Macula
Macular coloboma OMIM:120300
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... OMIM:249270
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Nephroblastoma, Sacral dimple, Enlarged kidney OMIM:618272
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Arteria lusoria, Recurrent aspiration pneumonia, Intention tremor, Ps... ORPHA:221139
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Cryptococcal meningitis, Functiona... ORPHA:90362
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Spastic tetraplegia, Spasticity, Choreoathetosi... OMIM:300438
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Meningococcal Meningitis
Shock, Papilledema, Skin rash, Stroke, Hypotension, Infectious encephalitis, Petechiae, Purpura ORPHA:33475
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Developmental And Epileptic Encephalopathy 28
Rigidity, Delayed myelination, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Spastic... OMIM:616211
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gliosis, Myoclonus, Apraxia, Abnor... OMIM:221770
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Vil... OMIM:614162
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Q Fever
Rheumatoid factor positive, Abnormal left ventricular function, Cholecystitis, Lupus anticoagulan... ORPHA:781
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... OMIM:617672
Gm1 Gangliosidosis
Recurrent respiratory infections, Ataxia, Abnormal retinal vascular morphology, Congestive heart ... ORPHA:354
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent upper respirat... OMIM:619752
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher... OMIM:162500
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Ataxia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Tetraplegia,... OMIM:603553
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Frequent falls,... OMIM:618279
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... ORPHA:101097
Meckel Syndrome, Type 8
Enlarged kidney, Short neck, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... ORPHA:540
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Skin rash, Tremor, Splenomegaly, ... ORPHA:99745
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Babinski sign, Optic atrophy, Spastic tetraplegia, R... OMIM:252650
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Macrocytic anemia, Mala... ORPHA:398063
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Brucellosis
Liver abscess, Rheumatoid factor positive, Chorea, Knee osteoarthritis, Leukopenia, Increased cir... ORPHA:1304
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemolytic an... OMIM:308230
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron defi... OMIM:301000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyel... OMIM:249900
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Reduced natura... OMIM:608233
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Cerebr... ORPHA:79264
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Pulmonary embolism, Megaloblastic anemia, Thrombocytopenia, Severe demy... ORPHA:79282
Cysticercosis
Retinal detachment, Abnormal optic chiasm morphology, Ataxia, Iridocyclitis, Chorioretinitis, Str... ORPHA:1560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Splenomegaly, Cerebral atrophy, CNS demyelination, Spasticity, Periph... OMIM:272200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased testicular s... OMIM:604168
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... ORPHA:71277
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia, Peripheral demyelination ORPHA:99944
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... ORPHA:73263
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Meningitis, Herpes simplex encephalitis, Gliosis OMIM:613002
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Cere... ORPHA:442835
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Autoimmune... ORPHA:3386
Japanese Encephalitis
Decreased motor nerve conduction velocity, Neutrophilia, Weakness due to upper motor neuron dysfu... ORPHA:79139
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy, Peripheral axonal neuropathy, Onion bu... OMIM:610100
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... OMIM:169500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Increased circulating myelocyt... ORPHA:36234
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thromboc... ORPHA:292
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Telangiectasia of the skin, Eosinophilia, ... ORPHA:464
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... OMIM:270700
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Macular coloboma, Macular... OMIM:619260
Butyrylcholinesterase Deficiency
Chronic infection, Congestive heart failure, Myocardial infarction, Paralysis ORPHA:132
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Antinuclear antibody positivit... OMIM:301080
Legionnaires Disease
Pericarditis, Ataxia, Myocarditis, Splenomegaly, Recurrent pharyngitis, Hepatitis, Endocarditis, ... ORPHA:549
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Paraparesis, Peripheral axonal neuropathy, Periphera... ORPHA:231445
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Nipah Virus Disease
Tremor, Recurrent pharyngitis, Myoclonus, Hypotension, Infectious encephalitis ORPHA:99825
Listeriosis
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis... ORPHA:533
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Dural Sinus Malformation
Papilledema, Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemor... ORPHA:97339
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Tremor, Congestive... ORPHA:94080
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... ORPHA:542306
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morpholo... OMIM:314390
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Meningitis, Infecti... ORPHA:117
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis OMIM:616286
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Periventricular heterotopia, Optic atroph... OMIM:616171
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis OMIM:616287
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Delayed myelination, Vacuolated lympho... OMIM:248500
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Ataxia, Involuntar... ORPHA:83597
Scrub Typhus
Abnormal bleeding, Anterior uveitis, Skin rash, Tremor, Myocarditis, Splenomegaly, Hypotension, M... ORPHA:83317
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Episcleritis, Skin rash, Orchitis, Hemiplegia/hemiparesis, Pustule, ... ORPHA:761
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Brain Small Vessel Disease 2
Subcortical heterotopia, Spastic tetraplegia, Intracranial hemorrhage, Hemiplegia, Polymicrogyria OMIM:614483
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spastic diplegia, Inflammatory abno... ORPHA:816
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, I... ORPHA:449285
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Splenomegaly, Tetraplegia, Anemia, Leukopenia, Prolonged prothrombin time, Hypertonia, He... OMIM:267700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Sneddon Syndrome
Antiphospholipid antibody positivity, Tremor, Chorea, Arterial stenosis, Intracranial hemorrhage,... ORPHA:820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abs... OMIM:619381
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
L-2-Hydroxyglutaric Aciduria
Abnormality of extrapyramidal motor function, Infectious encephalitis, Spastic tetraparesis ORPHA:79314
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Tangier Disease
Peripheral axonal neuropathy, Myocardial infarction, Splenomegaly, Facial diplegia, Coronary arte... OMIM:205400
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Babinsk... ORPHA:171629
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Herpes simplex encephalitis, Meningitis OMIM:617900
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Avian Influenza
Pneumonia, Congestive heart failure, Meningitis, Hepatitis, Leukopenia, Conjunctivitis, Myelitis,... ORPHA:454836
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Ataxia, Myocardial infarction, Myocarditis, ... ORPHA:3452
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of peripheral myelin... OMIM:618184
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia ORPHA:98916
Ectopia Lentis Et Pupillae
Retinal detachment, Ectopia pupillae, Iris transillumination defect, Persistent pupillary membrane OMIM:225200
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced... OMIM:242860
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Cryptorchidism, Arrhythmia, Hypertrophic cardiomyopathy, Infectious enc... ORPHA:1194
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Cerebral palsy, Epistaxis, Abnormal cerebral vascular morpholog... ORPHA:53719
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Meningitis, Hypertension, Hypov... ORPHA:2912
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal loss in central... OMIM:260565
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Poor fine motor... ORPHA:99947
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Macular degeneration, P... ORPHA:284289
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Arthritis, Recurrent pharyngitis ORPHA:42642
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... OMIM:264800
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Stroke-like episod... OMIM:619780
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Porphyria, Acute Hepatic
Hemolytic anemia, Respiratory paralysis, Paralysis OMIM:612740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu... ORPHA:48818
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... ORPHA:139402
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... OMIM:619079
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchidism, S... ORPHA:847
Alg6-Cdg
Rod-cone dystrophy, Ataxia, Retinal degeneration ORPHA:79320
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... ORPHA:206448
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... ORPHA:101111
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Intracranial hem... ORPHA:136
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxida... ORPHA:277
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation, Meningitis ORPHA:1117
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomegaly, Anemia ORPHA:100025
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Portal hypertension, Cerebral dysmyelination, Crypto... OMIM:609136
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:302800
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Chronic hepatitis OMIM:614602
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Leukodystrophy, Recur... ORPHA:79124
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, S... ORPHA:31204
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Rabies
Recurrent pharyngitis, Vocal cord paresis, Cerebral palsy, Sudden cardiac death ORPHA:770
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Lyme Disease
Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis ORPHA:91546
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Autoimmunity, Vasculitis, Arthritis, Anemia, Purpura ORPHA:375
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... OMIM:609981
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Autoimmunity, Global brain atrophy ORPHA:363558
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:240500
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytope... OMIM:620133
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Peripheral demyelination OMIM:616733
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity OMIM:617006
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Retinal atrophy, Postural tremor, Rigi... ORPHA:412057
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Alexander Disease
Ataxia, Facial palsy, Sudden cardiac death, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetr... ORPHA:58
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Hemiparesis, Arteriovenous mal... ORPHA:624
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... ORPHA:276621
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Ataxia, Retinal dystrophy, Delayed peripheral myelination, Cerebral atroph... ORPHA:464282
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Chorea,... ORPHA:255210
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Paralysis, Leukocytosis, Abnormal autonomic nervous system physiology, Hashi... ORPHA:83601
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Malabsorption, Thrombocytopenia, Neutropenia... OMIM:557000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... OMIM:601495
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... OMIM:619644
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Leukocytosis, Unusual CNS infect... ORPHA:297
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Leukoc... ORPHA:2070
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Decreased circula... OMIM:243150
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Drusen, Paraproteinemia, Recurrent infect... ORPHA:329918
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... OMIM:601457
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Arthritis, Keratoconjunctivitis sicca, Infectious encephal... ORPHA:779
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology, Hemiparesis ORPHA:398189
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Periventricular Nodular Heterotopia 1
Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Recurrent infec... OMIM:300049
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:99948
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... OMIM:615758
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Ataxia, Facial palsy, Pneumonia, Pustule,... ORPHA:68
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Splenomegaly, Abnormal sacrum morphology, Abnormal form of th... ORPHA:464329
Cinca Syndrome
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Menin... OMIM:607115
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le... ORPHA:99827
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Short neck, Splenomegaly, Nephrotic syndrome, Focal segmental glomerul... OMIM:617303
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Trichothiodystrophy
Congenital exfoliative erythroderma, Abnormal pyramidal sign, Gait ataxia, Macular degeneration, ... ORPHA:33364
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Splenomegaly, Retinal degeneration OMIM:615630
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Vascular granular osmiophi... ORPHA:168491
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Parkinsonism, Acanthocytosis, Rigidity, Optic atro... ORPHA:157850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Agyria, Retinal degeneration, Type II lissencephaly OMIM:615249
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Extracranial Carotid Artery Aneurysm
Autoimmunity, Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe infection, Vasculitis,... ORPHA:494424
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Stroke, Spasticity ORPHA:542310
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Vascular Hyalinosis
Hematochezia, Chorioretinal scar, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Joubert Syndrome 14
Ataxia, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage, Hypertension OMIM:614424
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Retinopathy, Retinal degeneration OMIM:252600
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e... ORPHA:394
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Decr... OMIM:616740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... OMIM:171420
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... ORPHA:853
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... ORPHA:29072
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Optic atro... OMIM:234200
Cockayne Syndrome Type 3
Retinal degeneration, Intention tremor, Retinal atrophy, Cardiomyopathy, Increased blood pressure... ORPHA:90324
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Scedosporiosis
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... ORPHA:449280
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Paraparesis, Atrophy... ORPHA:2822
Propionic Acidemia
Pancytopenia, Eczema, Cerebellar hemorrhage, Cerebral atrophy, Anemia, Cardiomyopathy, Neutropeni... OMIM:606054
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Trigeminal Neuralgia
Vascular tortuosity, Cranial nerve compression, CNS demyelination, Peripheral demyelination ORPHA:221091
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... ORPHA:229717
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Babinski sign, Hypertonia, Neurodegeneration, Retinal degeneration ORPHA:79244
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Brain atrophy OMIM:615284
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Inflamm... ORPHA:3392
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re... ORPHA:88
Syndromic Diarrhea
Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent infections, C... ORPHA:84064
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Myasthenic Syndrome, Congenital, 16
Anti-acetylcholine receptor antibody positivity, Periodic paralysis OMIM:614198
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Uveitis, Infl... ORPHA:1451
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell ... ORPHA:98813
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... ORPHA:247234
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... OMIM:218000
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Myoclonus, Cerebral hemorrhage ORPHA:324708
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par... OMIM:614487
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Villous atrophy, Steatorrhea, Thrombocytosis, Decreased circulating IgG level, Decr... OMIM:212065
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorr... ORPHA:25
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Short neck OMIM:200995
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Renal artery aneurysm, Ataxia, Portal hyp... OMIM:615688
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, P... OMIM:617053
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema OMIM:127000
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... ORPHA:167
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Hartnup Disease
Skin rash, Ataxia, Infectious encephalitis ORPHA:2116
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Heart murmur, Abnormal vena cava morphology, Rod-cone dystrophy, Cerebral cortica... ORPHA:166035
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukope... ORPHA:99828
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... ORPHA:254930
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Chorioretinal coloboma, Leukodystrophy, Otitis media, Intention tremor, Ataxi... OMIM:619475
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Superficial Siderosis
Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Persistent bleeding after trauma, In... ORPHA:247245
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Delayed CNS myelination, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Tubulointerstitial ne... OMIM:251000
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal ... OMIM:618733
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Hurler Syndrome
Aortic regurgitation, Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Cardiom... OMIM:607014
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Antiphospholipid Syndrome, Familial
Retinal detachment, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Iritis OMIM:107320
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... ORPHA:276244
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Poor fine motor coordination, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystroph... ORPHA:436245
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... ORPHA:284227
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper... OMIM:252160
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczema, Erythema nodosum, Cryptorchidism, Babinski sign, Optic a... ORPHA:3132
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Hepatosplenome... ORPHA:505248
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Scoliosis, Enlarged kidney ORPHA:276280
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Coarctation of aorta, Hemiparesis, Spasticity, Subcortical cere... ORPHA:2396
Vici Syndrome
Recurrent viral infections, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG... OMIM:242840
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Decreased number of... OMIM:162400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Acute Transverse Myelitis
Orthostatic hypotension, Invasive parasitic infection, Abscess, Subarachnoid hemorrhage, Autoimmu... ORPHA:139417
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Coronary... ORPHA:280679
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... OMIM:610532
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Hypertonia, Throm... ORPHA:85212
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory e... OMIM:216400
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Anemia OMIM:619377
Chediak-Higashi Syndrome
Tremor, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Impaired neutrophil ba... OMIM:214500
Chikungunya
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Peripheral nerve compression, R... ORPHA:324625
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Macrophage Activation Syndrome
Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Systemic lupus erythemato... ORPHA:158061
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Splenomegaly, H... OMIM:252500
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Gliosis, Hypertonia, Retinal degenerati... ORPHA:191
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Gliosis, ... OMIM:252150
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Abnormal central motor function, A... ORPHA:760
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... ORPHA:47
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Hydranencephaly
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... ORPHA:2177
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Persistent CMV viremia, Splenomegaly, Recurrent up... OMIM:616005
Norrie Disease
Retinal detachment, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Retinal... OMIM:310600
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Iris atrophy OMIM:259770
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Ataxia, Splenomegaly, Opportunistic bacterial infecti... ORPHA:158048
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil... ORPHA:464370
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Mucopolysaccharidosis Type 3
Vocal cord paresis, Recurrent sinopulmonary infections, Ataxia, Splenomegaly, Recurrent tonsillit... ORPHA:581
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Pancytopenia, Paralysis, Abnormality of the spleen... ORPHA:2072
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Tremor, Optic atrophy, Stroke-like episode, Intracranial hemorrhag... ORPHA:86309
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Pneumonia, Recurrent viral infections, Intraventricular hemo... ORPHA:420741
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Recurren... OMIM:612260
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Gray matter heterotopia, Bradycardia, P... OMIM:617397
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Abnormal optic nerve morphology, Arteri... ORPHA:109
Werner Syndrome
Elevated hemoglobin A1c, Retinal degeneration, Premature arteriosclerosis OMIM:277700
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenomegaly, Hyperten... OMIM:230800
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Hypera... OMIM:209900
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Meningitis, Vasculitis, Prostatiti... ORPHA:900
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... OMIM:615709
Pheochromocytoma
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... OMIM:171300
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign... OMIM:608703
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Iron deficiency... OMIM:301074
Glossopharyngeal Neuralgia
Autoimmunity, Cranial nerve compression, Schwannoma, Jaw claudication, Vocal cord paralysis, Abno... ORPHA:221098
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Ataxia, Congestive heart failure, Babinski sign, Abn... ORPHA:94147
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema ORPHA:93325
Tarp Syndrome
Athetosis, Tetralogy of Fallot, Optic atrophy, Subdural hemorrhage OMIM:311900
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Gliosis OMIM:105550
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Vasculiti... ORPHA:228123
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Vocal cord paresis, ... OMIM:601152
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... ORPHA:37042
Immunodeficiency 66
Pustule, Meningitis, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity, Cerebral... ORPHA:500144
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Trichohepatoenteric Syndrome 1
Villous atrophy, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody lev... OMIM:222470
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Decr... ORPHA:217260
Alpers-Huttenlocher Syndrome
Paraparesis, Spastic paraparesis ORPHA:726
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia, Cerebral atrophy OMIM:614116
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Reti... OMIM:175780
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Meningitis, Recurrent pharyngitis, Vasculi... ORPHA:397
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Trichinellosis
Skin rash, Facial palsy, Increased circulating IgE level, Babinski sign, Retinal hemorrhage, Cent... ORPHA:863
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis ORPHA:101005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia OMIM:618886
Farber Disease
CNS foam cells, Thrombocytopenia, Paraparesis, Recurrent upper respiratory tract infections, Hepa... ORPHA:333
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Simplified gyral pattern, CNS hypomyelination, T lymphocytopenia, B lymphocytopenia, Recurrent ap... OMIM:615966
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Ataxia, Autoimmunity, Skin rash, Splenomegaly, Hemiplegia/hemipares... ORPHA:36412
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Cranial nerve compr... ORPHA:2785
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Recurrent ear infections, Abnormal foveal morph... ORPHA:580
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Raynaud phenomen... ORPHA:3260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... ORPHA:369929
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Short neck, Abnormal renal artery m... ORPHA:79328
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Respiratory infections in early life, Retinal degeneration ORPHA:96179
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Subdural hemorrhage, Cerebral cortical atrophy OMIM:618291
Menkes Disease
Intracranial hemorrhage, Babinski sign, Hypertonia OMIM:309400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Agyria, Optic nerve hypoplasia, Cryptorchidism, Optic atroph... OMIM:236670
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Tremor, Simplified gyral pattern, Dysmetria, Coarctation of aorta, Spasticity, Hypertensi... OMIM:220111
Hypophosphatasia, Infantile
Intracranial hemorrhage, Recurrent respiratory infections, Anemia OMIM:241500
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Optic atrophy, Vocal cord paralysis, Poo... ORPHA:99956
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret... ORPHA:500095
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Autoimmunity, Pneumonia, Prostatit... ORPHA:1546
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Leukopenia, Tubulointerstitial nep... ORPHA:289390
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Ecchym... ORPHA:340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Type II lissencephaly, Optic atrophy, Hypoplasia of the retina, Retinal dysplasi... OMIM:253280
Medulloblastoma
Ataxia, Cerebellar hemorrhage, Dysmetria, Abnormal cranial nerve morphology, Progressive cerebell... ORPHA:616
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Myocarditis, Leukocytosis, Splenomegaly, Recurrent pharyng... ORPHA:829
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Abnormal EKG, Abnormal central moto... ORPHA:3385
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Paraparesis, Thrombocytopenia, Leukopenia, Anemia ORPHA:27
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr... OMIM:259730
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... OMIM:617827
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:298
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Testicular dysgenesis, Abnormal peripher... ORPHA:168563
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Vasculitis, Recurrent pneumonia, Decreased mean plate... OMIM:617718
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enl... ORPHA:79259
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... OMIM:612541
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Sepsis, Recurrent infections ORPHA:79327
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Stage 5 chronic kidney dis... ORPHA:731
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... OMIM:231670
Brown-Vialetto-Van Laere Syndrome 1
Recurrent respiratory infections, Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle c... OMIM:211530
Foodborne Botulism
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Absence of the sacrum, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kid... OMIM:306955
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial... ORPHA:79102
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Pseudohypoaldosteronism Type 2
Hypertension, Periodic paralysis ORPHA:757
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myositis, A... ORPHA:809
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis ORPHA:99014
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... ORPHA:90068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary insufficiency, Nephritis, Retinal degeneration OMIM:208500
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperlordosis, Enuresis nocturna, Scoliosis, Enlarged kidney OMIM:615873
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Villous atrophy ORPHA:567983
Arachnoid Cyst
Facial palsy, Subarachnoid hemorrhage, Paraparesis, Cranial nerve compression, Severe infection, ... ORPHA:2356
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Optic nerve compression, Testicular neoplasm ORPHA:199244
Glioblastoma
Glioblastoma multiforme, Paralysis ORPHA:360
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... ORPHA:74
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Optic nerve compression ORPHA:91350
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Bohring-Opitz Syndrome
Recurrent respiratory infections, Retinal atrophy, Delayed myelination, Optic atrophy, Recurrent ... ORPHA:97297
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Vocal cord paralysis, Glomus jugular tumor, Adrenal p... OMIM:605373
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis ORPHA:275872
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Abnormal autonomic nervous system physiology, Recur... ORPHA:293987
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Short neck, Scoliosis, Polycystic kidney dysplasia, Enla... OMIM:300855
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... ORPHA:71505
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Bronchiectasis ORPHA:2375
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration, Gait ataxia OMIM:618479
Pineoblastoma
Papilledema, Retinoblastoma, Paralysis ORPHA:251909
Leptospirosis
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uv... ORPHA:509
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Hypertonia, Fasciculat... ORPHA:682
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... ORPHA:2038
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Recurrent infections, Neutropenia, ... ORPHA:79284
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Alport Syndrome
Renal glomerular foam cells, Macular degeneration, Hypertension, Retinal flecks, Abnormal aortic ... ORPHA:63
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Skin rash, Slurred... ORPHA:90062
Oculopharyngodistal Myopathy
Vocal cord paresis, Recurrent aspiration pneumonia, Paraplegia ORPHA:98897
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Periodic paralysis OMIM:188580
Bohring-Opitz Syndrome
Gray matter heterotopia, Abnormal optic nerve morphology, Delayed peripheral myelination, Recurre... OMIM:605039
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Periodic paralysis OMIM:613239
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Respiratory paralysis, Paralysis OMIM:176000
Meningioma
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Cerebral he... ORPHA:2495
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Increased circulating IgG lev... OMIM:619472
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... ORPHA:169090
Gitelman Syndrome
Prolonged QT interval, Hashimoto thyroiditis, Paralysis, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Cerebral Creatine Deficiency Syndrome 2
Paraparesis OMIM:612736
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Decreased nerve conduct... ORPHA:477817
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paralysis OMIM:612300
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Arthritis, Mitochondrial swelling ORPHA:397744
Pseudohypoaldosteronism, Type Iia
Hypertension, Periodic hyperkalemic paralysis OMIM:145260
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation... OMIM:170390
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... OMIM:610984
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Venous insufficiency, Chorea, Arterial stenosis, Intr... ORPHA:565
Congenital Myopathy 15
Tricuspid regurgitation, Vocal cord paralysis OMIM:620161
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Decreased amplitude of sensory action potentials, Self-mutil... ORPHA:2388
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Disseminated viral infection, Thrombocytopenia, Leukocytosis, Spl... ORPHA:90051
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Vertebral segme... OMIM:312870
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Spasticity, Limb hypertonia OMIM:618480
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Action tremor ORPHA:199343
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Familial Cerebral Cavernous Malformation
Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Venous malformation ORPHA:221061
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Heart murmur, Intracranial hemorrhage... ORPHA:163979
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost... ORPHA:90291
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Prominent superficial veins, Telangiectasia of the skin, Abn... ORPHA:79474
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Voca... ORPHA:64744
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Tes... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Tes... ORPHA:363958
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Hypertension, Dysdiadochokinesis, Peripheral hypomyelination, Chronic... OMIM:612780
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... ORPHA:363618
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Keratitis, Abnormal autonomic nervous system physiology, Decreased number of small... OMIM:256800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Incoordination, Tachycardia, Decreased number of large peripheral myelin... OMIM:223900
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Follicular Lymphoma
Splenomegaly, Meningitis ORPHA:545
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Recurrent respiratory infections, Retinal dystrophy, Ataxia, Cholangitis, Hepatosplenomegaly, Mac... OMIM:266920
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Neutrophilia, Ataxia, Severe periodontitis, Recurrent urinary tra... ORPHA:99843
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Vocal cord paralysi... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Intraventricular hemorrhage, Cerebral atrophy, Aspiration pneumonia OMIM:616430
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Acne, Testicular adrenal rest tumor ORPHA:90795
Inhalational Botulism
Paralysis ORPHA:254504
Arnold-Chiari Malformation Type I
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the vestibulocochl... ORPHA:268882
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Retinal dystrophy, Unilateral vocal cord paralysis ORPHA:324540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Paraparesis, Spastic paraparesis OMIM:615157
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Prolonged prothrombin time, Myoclonus OMIM:619055
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Aganglionic megacolon, Brain atrophy OMIM:613603
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis OMIM:617854
Kikuchi-Fujimoto Disease
Ataxia, Skin rash, Antinuclear antibody positivity, Myocarditis, Thrombocytopenia, Vasculitis, Sp... ORPHA:50918
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Myocarditis, Lymph... ORPHA:31205
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Eczema, Vocal cord paralysis, Hyperkinetic mov... OMIM:617799
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S... ORPHA:379
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Adenohypophysitis
Orthostatic hypotension, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Normoch... ORPHA:95512
Kawasaki Disease
Pericarditis, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Leukocytosis, Meningi... ORPHA:2331
Pmm2-Cdg
Pericarditis, Angina pectoris, Ataxia, Abnormality of coordination, Delayed myelination, Intracra... ORPHA:79318
Panhypophysitis
Orthostatic hypotension, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Normoch... ORPHA:95513
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Gorham-Stout Disease
Torticollis, Osteomyelitis, Meningitis ORPHA:73
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Decreased distal sensory nerve action potential OMIM:606071
Osteogenesis Imperfecta
Aortic regurgitation, Ataxia, Cerebral hemorrhage, Osteoarthritis, Aortic root aneurysm, Tetrapar... ORPHA:666
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis leading to amputation due t... OMIM:256810
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Erysipelas, Arthri... OMIM:249100
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus OMIM:619574
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Thrombocyto... ORPHA:544482
Sheehan Syndrome
Orthostatic hypotension, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Normoch... ORPHA:91355
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Vocal cord paresis, Amyotrophic lateral sclerosis ORPHA:600
Degcags Syndrome
Tachycardia, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Congenital hypoplastic ... OMIM:619488
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Vasculiti... ORPHA:342
Distal Renal Tubular Acidosis
Hemolytic anemia, Paralysis ORPHA:18
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Bra... ORPHA:2929
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... OMIM:613795
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis, Hypertonia, Subdural hemorrhage OMIM:619714
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Adrenoleukodystrophy
Paraparesis OMIM:300100
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Witteveen-Kolk Syndrome
Delayed CNS myelination, Poor motor coordination, Unilateral cryptorchidism, Eczema, Intracranial... OMIM:613406
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Kufor-Rakeb Syndrome
Paraparesis OMIM:606693
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Palpitations, Hypote... ORPHA:91347
Paget Disease Of Bone 2, Early-Onset
Paraparesis OMIM:602080
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis OMIM:607483
Plague
Abnormal bleeding, Chapped lip, Tachycardia, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis,... ORPHA:707
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Protein-losing enteropathy, Decreased... OMIM:618183
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Asplenia, Patent ductus arteriosus, Vocal cord paralysis, I... OMIM:164280
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Schinzel-Giedion Syndrome
Aganglionic megacolon, Ependymoma, Vocal cord paralysis, Recurrent pneumonia, Spasticity, Hyperto... ORPHA:798
Williams-Beuren Syndrome
Recurrent urinary tract infections, Incoordination, Portal hypertension, Retinal arteriolar tortu... OMIM:194050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Paraparesis, Anemia OMIM:620358
Arachnoiditis
Meningitis ORPHA:137817
Alström Syndrome
Hypoplasia of the Leydig cells, Otitis media, Ataxia, Portal hypertension, Drusen, Testicular fib... ORPHA:64
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Pulmonary artery stenosis, Unilateral vocal cord paralysis, Cerebral atrophy,... OMIM:301030
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Meningitis, Oligozoospermia ORPHA:91351
Esophageal Atresia
Recurrent respiratory infections, Coarctation of aorta, Hypertonia, Esophagitis, Vocal cord pares... ORPHA:1199
Igg4-Related Pachymeningitis
Paraparesis, Eosinophilia ORPHA:449427
Cerebrotendinous Xanthomatosis
Paraparesis, Gliosis, Spastic paraparesis ORPHA:909
Codas Syndrome
Cryptorchidism, Vocal cord paresis OMIM:600373
Oculodentodigital Dysplasia
Paraparesis OMIM:164200
Bilateral Perisylvian Polymicrogyria
Paraparesis ORPHA:98889
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Sacral Defect With Anterior Meningocele
Meningitis, Rectal abscess OMIM:600145
Split Cord Malformation
Paraparesis ORPHA:573278

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 Cx3cr1

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 Cx3cr1.

No publications found that use IMPC mice or data for Cx3cr1.

Order Mouse and ES Cells

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
Cx3cr1tm380305(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cx3cr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cx3cr1em1(IMPC)Mbp Whole-gene deletion Mice

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