Gene Summary

Name:
autoimmune regulator
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Airetm1.1(NCOM)Mfgc HOM Early adult 2.52×10-05
abnormal cholesterol homeostasis Airetm1.1(NCOM)Mfgc HET Early adult 1.40×10-08
abnormal retina morphology Airetm1.1(NCOM)Mfgc HOM Early adult 3.80×10-06
abnormal eye morphology Airetm1.1(NCOM)Mfgc HOM Early adult 0.00
increased monocyte cell number Airetm1.1(NCOM)Mfgc HOM Early adult 7.59×10-05

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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.

Gross Pathology and Tissue Collection

Images

16 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Histopathology

Images

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Eye Morphology

Images Ophthalmoscopy

13 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Aire mutations

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

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

The table below shows human diseases associated to Aire by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Premature ovarian insufficienc... OMIM:240300
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia OMIM:243110
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropeni... OMIM:614470
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen... ORPHA:31202
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto... OMIM:618985
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... OMIM:616871
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Pulmonary Blastoma
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... ORPHA:2552
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Autoimmune Hepatitis
Inflammation of the large intestine, Cirrhosis, Glomerulonephritis, Acute hepatitis, Jaundice, Ga... ORPHA:2137
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Oral ulcer, Lupus anticoagulant, Antinuclear antibody positivity, Thrombo... OMIM:616744
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Monocytosis OMIM:615592
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Colorectal polyposis ORPHA:160148
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimu... OMIM:307200
Neuromyelitis Optica Spectrum Disorder
Myelitis, Peripheral demyelination, Paraplegia, Optic neuritis, Nausea, Autoimmune antibody posit... ORPHA:71211
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Immune Thrombocytopenia
Thrombocytopenia, Platelet antibody positive OMIM:188030
Igg4-Related Thyroid Disease
Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu... ORPHA:64744
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Conical tooth, Osteomyelitis, Hepatosplenomegaly, De... OMIM:301081
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c... OMIM:607271
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Keratoconjunctivi... OMIM:617321
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Acute hepatic failure, F... ORPHA:228426
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis ORPHA:60026
Hepatitis, Fulminant Viral, Susceptibility To
Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:618549
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy OMIM:603649
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Increased circul... OMIM:617388
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Hepatomegaly, Abnormal... OMIM:612387
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... OMIM:613495
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... OMIM:608971
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Perinuclear antineutro... ORPHA:60
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Ménétrier Disease
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Stomach cancer, Abnorma... ORPHA:2494
Cryptococcosis
Pneumonia, Vomiting, Abnormal optic nerve morphology, Systemic lupus erythematosus, Osteomyelitis... ORPHA:1546
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regeneration, Decreased num... OMIM:607734
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent otitis media, Hypogonadism, External genital hypoplasia, Obesity, Retina... OMIM:615993
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... OMIM:300400
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... OMIM:615122
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Premature ovarian insufficienc... OMIM:240300
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi... ORPHA:227982
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte transformation with phytohem... OMIM:617006
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Decreased specific anti-polysaccharide antibody level, Eczematoid derma... OMIM:606367
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopen... OMIM:619164
Omenn Syndrome
Pneumonia, Failure to thrive, Autoimmunity, Splenomegaly, Hypothyroidism, Erythroderma, Hepatomeg... ORPHA:39041
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Recurrent infection of the gastroin... OMIM:615207
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... OMIM:617638
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Gastrointestinal hemorrhage, Diabetes insipidus, ... ORPHA:900
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... OMIM:620449
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Myelodyspl... ORPHA:486
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis, Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Mitochondrial Complex I Deficiency, Nuclear Type 8
Tetraparesis, Axial dystonia, Pancreatitis, Optic disc pallor, Dystonia, Dysphagia OMIM:618230
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, Pr... ORPHA:449395
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity... OMIM:180800
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Autoimmunity, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Juvenile rhe... ORPHA:85414
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Hepatiti... ORPHA:227990
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Oral u... OMIM:620376
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat... ORPHA:83471
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Impaired T cell f... OMIM:240500
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia ORPHA:141152
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Abnormal optic nerve morphology, Colon cancer, Sialadenitis, Orc... ORPHA:449563
Diencephalic Syndrome
Optic atrophy, Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hyp... ORPHA:1672
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia ORPHA:2688
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Glandular hypospadias, Gastritis, Shawl scrotum, Recurrent respiratory infections, Hypo... ORPHA:2575
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi... OMIM:607594
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Basal lamina onion bulb formation, Decreased motor nerve conduction velocity,... OMIM:614895
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Diarrhea, Inflammatory abnorma... ORPHA:277
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, An... OMIM:226990
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Recurrent pneumonia, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, ... OMIM:602271
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... OMIM:162500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... ORPHA:66661
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Spasticity, Spastic paraparesis, Leukodystrophy, Frequent falls, Peripheral demyel... OMIM:614877
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogonadism, Cryp... ORPHA:3363
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... OMIM:618805
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creat... OMIM:610717
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the fundus, Ova... OMIM:615108
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cryptorchidism, Re... OMIM:275400
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Gout, Chronic ... OMIM:232240
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Microscopic Polyangiitis
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin ... ORPHA:727
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Protracted diarrhea, Acute otitis media, Autoimmune thrombo... ORPHA:572
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv... OMIM:607115
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Autoimmunity, Skin rash, Spleno... ORPHA:809
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Decreased nerve conduction ve... ORPHA:280234
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Activated Pi3K-Delta Syndrome
Pneumonia, Failure to thrive, Recurrent otitis media, Decreased circulating antibody level, Splen... ORPHA:397596
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... ORPHA:51636
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... ORPHA:158061
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the... OMIM:615109
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Paralysis, Decreased numbe... OMIM:605285
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Hip osteoarthritis, Rhegmatogenous retinal detachment OMIM:619248
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axonal degeneration/regener... OMIM:609260
Wolman Disease
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H... OMIM:620151
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Peripheral demyelination, Chorea, Rigidity, Abnormality of extrapyramidal motor funct... OMIM:617672
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Vitreoretinopathy, Neovascular Inflammatory
Uveitis OMIM:193235
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Peripheral demyelination, Decreased compound muscle action potential amplitude, Babi... OMIM:618279
Igg4-Related Submandibular Gland Disease
Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibular glands, Sialadenitis, ... ORPHA:449432
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Decreased lacrimation, Fasci... ORPHA:39812
Autoimmune Disease, Susceptibility To, 1
Hashimoto thyroiditis OMIM:607836
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Delayed puberty, Arthritis,... ORPHA:575
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune ... OMIM:603909
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Hydroa Vacciniforme
Papulovesicular eruption, Epiphora, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der... ORPHA:330058
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis OMIM:617044
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Keratoendotheliitis Fugax Hereditaria
Epiphora, Keratitis OMIM:148200
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:608710
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Failure to thrive, Osteomyelitis, Autoi... ORPHA:47
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Optic disc hypoplasia, Failure to thrive, Aspiration pneumonia OMIM:609528
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, ... OMIM:607706
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... ORPHA:319552
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima, Gastroesophageal reflux, Impotence OMIM:608088
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... ORPHA:85410
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Autosomal Agammaglobulinemia
Bronchiectasis, Diarrhea, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, High palate, Ar... ORPHA:33110
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Glycerol Kinase Deficiency
Vomiting, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Episodic vomiti... OMIM:307030
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Emphysema, Episcleritis, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Arthr... ORPHA:36412
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Foot osteomyelitis, Fasciculations, Decreased compound... OMIM:600882
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hypohidrosis, Hepatitis ORPHA:363523
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr... OMIM:304790
Zygomycosis
Diarrhea, Ileitis, Pustule, Retinal detachment, Acute infectious pneumonia, Endocarditis, Gastroi... ORPHA:73263
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Hepatosplenomegaly, Abnormal intestine morphology... ORPHA:391487
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Antinuclear antibody positivity... OMIM:614468
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmunity, Weight loss, Hyp... ORPHA:411593
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Failure to thrive, Recurrent... OMIM:212750
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Gastrointestinal dysmotility, Recurrent skin infections, Decreased lacrimation, Hypohidrosis OMIM:616488
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste... OMIM:619386
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ... OMIM:603552
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... ORPHA:103918
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia... OMIM:308240
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Skin rash, Weight loss, Recurrent ... ORPHA:33355
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Chorea, Hemiplegia/hemiparesis, Pancreatitis, Hepatomegaly, Dystonia, Choreoathetosis ORPHA:289916
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Neutral Lipid Storage Myopathy
Fasciculations, Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Cholecy... ORPHA:98908
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Nocardiosis
Lymphadenitis, Scleritis, Weight loss, Endocarditis, Cutaneous abscess, Osteomyelitis, Pleural ef... ORPHA:31204
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Babinski sign, CNS de... OMIM:249900
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Decreased motor nerve conduction velocity, Per... OMIM:145900
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... OMIM:615617
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Generalized lymphadenopathy, A... OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... OMIM:169500
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Galactosemia Iii
Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice OMIM:230350
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Increased ci... ORPHA:139507
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... ORPHA:449427
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the... OMIM:158350
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Birdshot Chorioretinopathy
Posterior uveitis, Vitreous floaters, Retinal pigment epithelial atrophy, Abnormal chorioretinal ... OMIM:605808
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Splenomegaly, Pancreatitis, Hepatomegaly ORPHA:79312
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Pleu... OMIM:618935
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Aut... OMIM:618495
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss OMIM:191390
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dysphagia ORPHA:97285
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Macular degeneration ORPHA:85334
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Krabbe Disease
Optic atrophy, Progressive spasticity, Vomiting, Decreased nerve conduction velocity, Peripheral ... OMIM:245200
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Whipple Disease
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Splenomegaly, Infectious encephalitis, Myositis, ... ORPHA:3452
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, ... OMIM:620565
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu... ORPHA:101097
Kilquist Syndrome
Gastroesophageal reflux, Xerostomia, Alacrima, Intestinal malrotation, Chronic constipation, Midg... OMIM:619080
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Inflammation of the large in... ORPHA:98813
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Cholecystit... OMIM:250100
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin... OMIM:619868
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Recessive Mitochondrial Ataxia Syndrome
Sensory axonal neuropathy, Limb dysmetria, Dysmetria, Hashimoto thyroiditis, Abnormality of centr... ORPHA:94125
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr... OMIM:614102
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Emphysema, Pleural effus... OMIM:181000
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Abnormal circulating enzyme concentra... ORPHA:676
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Weigh... OMIM:209950
Alopecia Areata 1
Autoimmunity OMIM:104000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Stomach can... ORPHA:331235
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hashimoto thyroiditis, Paralysis, Hypothyroidism, Abnormal autonomic nervous system physi... ORPHA:83601
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Failure to thrive in infancy, Increased circulating IgE level, Reduced del... OMIM:617241
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... OMIM:607616
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:300991
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Optic disc pallor, Recurrent lower respiratory trac... OMIM:619446
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palat... OMIM:147060
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Shigellosis
Pneumonia, Vomiting, Ulcerative colitis, Cholestasis, Bloody diarrhea, Failure to thrive in infan... ORPHA:810
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Autoimmunity, Anti... ORPHA:85436
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Alacrima, Achalasia OMIM:300858
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Paraparesis, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis ORPHA:27
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... OMIM:214950
Malt Lymphoma
Posterior uveitis, Abnormality of the thyroid gland, Constipation, Weight loss, Hyperhidrosis, Re... ORPHA:52417
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Systemic Capillary Leak Syndrome
Diarrhea, Pleural effusion, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... ORPHA:733
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Wolman Disease
Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomega... ORPHA:75233
Scrub Typhus
Skin rash, Splenomegaly, Infectious encephalitis, Hyperhidrosis, Myocarditis, Anterior uveitis ORPHA:83317
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Dystonia, Peripheral demyelination, Ataxia OMIM:616684
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased motor nerve conduction velocity, Peripheral demyelination, C... OMIM:604168
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Gastroesophageal reflux, Bronchitis, Neoplasm of the ... ORPHA:125
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Macroglossia, Parotitis, Recurrent otitis media, Microcytic anemia, Incre... OMIM:256040
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Spinocerebellar Ataxia Type 43
Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropathy, Decreased number of la... ORPHA:497764
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... OMIM:620632
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
Cach Syndrome
Optic atrophy, Spasticity, Vomiting, Hepatosplenomegaly, Limb ataxia, Dysmetria, Hemiparesis, Tru... ORPHA:135
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Lacrimation abnormality, Hypogonadotropic hypogonadism, High palate, Cleft palate ORPHA:1135
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Retinal degeneration, Rod-con... OMIM:615982
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Abnormal oral mucosa morphology, Iritis, Myeloproliferative disor... ORPHA:158000
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancreatic insufficien... OMIM:219700
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Lyme Disease
Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Q Fever
Hepatosplenomegaly, Lupus anticoagulant, Antiphospholipid antibody positivity, Weight loss, Hepat... ORPHA:781
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Inflammatory abn... ORPHA:1451
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... OMIM:615952
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Lupus anticoagulant, ... OMIM:107320
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Failure to thrive, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusit... ORPHA:229717
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:118210
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Oral-pharyngeal dysphagia, Peripheral hypomyelination OMIM:616287
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal optic nerve morphology, Abnormality of the submandibular glands, Optic nerve... ORPHA:79078
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Hepatosplenomegaly, Chorioretinitis, Synovitis, Prolonged neonata... ORPHA:499009
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... OMIM:301080
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Diarrhea, Gastroesophageal reflux, Vomit... ORPHA:298
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Agammaglobulinemia 3, Autosomal Recessive