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Gene: Cd59a MGI:109177

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CD59a antigen
Synonyms:
Cd59,  protectin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Cd59a 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 Cd59a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300

The table below shows human diseases predicted to be associated to Cd59a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... OMIM:615897
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... OMIM:618394
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Rheumatoid factor positive, Tachypnea, Increased circulating I... OMIM:615934
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Persistent EBV viremia, De... OMIM:619510
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... OMIM:194380
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl... OMIM:618935
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Recurrent... ORPHA:277
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Meningitis, Abno... ORPHA:1163
Diffuse Alveolar Hemorrhage
Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s... ORPHA:90060
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Iron deficie... ORPHA:37042
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... ORPHA:99867
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... OMIM:609529
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... OMIM:611926
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenomegaly, Increase... OMIM:618892
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... ORPHA:79124
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
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
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... ORPHA:169160
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu... ORPHA:69126
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... OMIM:180800
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis ORPHA:33574
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Idiopathic Pulmonary Hemosiderosis
Rheumatoid factor positive, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diff... ORPHA:99931
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating complemen... OMIM:615559
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Recurrent infections, Anemia, ... OMIM:617591
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Glomerulopathy, ... ORPHA:183
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... OMIM:253600
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ... OMIM:243700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f... ORPHA:2032
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Auto... ORPHA:809
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Autoimmune antibody positivity, Plasmacytosis, Cough ORPHA:60026
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... ORPHA:206569
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Respiratory insufficiency, Hypert... ORPHA:2111
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... ORPHA:289390
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... OMIM:616005
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur... OMIM:611881
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... OMIM:619774
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... ORPHA:275
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
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... OMIM:617241
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... OMIM:226990
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increase... ORPHA:98813
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thromb... OMIM:614470
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... OMIM:137100
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Reticular pattern... OMIM:614742
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia... ORPHA:420741
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
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 Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper... ORPHA:713
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, ... OMIM:613179
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... ORPHA:244242
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi... OMIM:619652
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... ORPHA:169079
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infect... OMIM:618048
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... OMIM:615952
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Crackles, Portal hypertension, Dyspnea, Hepatosplenomegaly, Restricti... ORPHA:210136
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... OMIM:608233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Sarcoidosis, Susceptibility To, 2
Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abn... OMIM:612387
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Respiratory tract infection, Raynaud p... ORPHA:79128
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... ORPHA:39812
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Cholecystit... ORPHA:781
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Muscular edema ORPHA:3165
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Pgm3-Cdg
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... ORPHA:443811
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... OMIM:619752
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper... ORPHA:2902
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, Anti-acetylcholin... ORPHA:589
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thr... OMIM:613496
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... OMIM:607706
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko... ORPHA:764
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome... OMIM:616414
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Pneumocystis carinii pneumon... OMIM:620321
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Aut... OMIM:102700
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... OMIM:274150
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... OMIM:616636
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... OMIM:616740
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea... OMIM:607616
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... OMIM:615592
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... OMIM:209920
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
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
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Myeloid... OMIM:614743
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Foot joint contracture, Autoimmunity, Pulmonary fibrosis, Pulmonary a... ORPHA:220402
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... OMIM:618165
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... OMIM:617780
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, A... ORPHA:2552
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Meningitis, Glomerulopathy,... ORPHA:900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin... OMIM:620210
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi... ORPHA:3392
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... OMIM:615758
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Recurrent v... OMIM:615577
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 23
Rheumatoid factor positive, Recurrent staphylococcal infections, Severe varicella zoster infectio... OMIM:615816
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... OMIM:609260
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Autosomal Recessive Spastic Paraplegia Type 70
Nephrotic syndrome, Abnormal pulmonary interstitial morphology ORPHA:401835
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Antine... ORPHA:464370
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Axonal loss, Diffuse peripher... ORPHA:206594
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... OMIM:615767
Krabbe Disease
CNS demyelination, Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia OMIM:245200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... OMIM:618278
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... OMIM:602450
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... OMIM:618913
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Gastrointestinal hemorrhage, ... ORPHA:93672
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Splenomegaly, Myocard... ORPHA:3452
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... OMIM:300635
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin... OMIM:618261
Griscelli Syndrome, Type 2
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I... OMIM:301000
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Overlap Myositis
Proximal muscle weakness in upper limbs, Abnormality of the kidney, Autoimmunity, Perifascicular ... ORPHA:206572
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Iridocyclitis, Dyspnea, Hypercalciu... OMIM:181000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjun... OMIM:142680
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Recurrent pharyngitis, Leuk... ORPHA:32960
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... ORPHA:227990
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia ORPHA:2668
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Dyspnea, Congestive heart failure,... ORPHA:220393
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineutrophil antibody positivity... OMIM:301078
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Abnormality of the kidney, Raynaud phenomenon, Pulmonar... ORPHA:90291
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thrombocytopenia,... OMIM:613011
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... OMIM:620010
Galactosemia I
Hemolytic anemia, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosur... OMIM:230400
Postinfectious Vasculitis
Rheumatoid factor positive, Severe varicella zoster infection, Recurrent candida infections, Gast... ORPHA:48435
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoim... ORPHA:227982
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marro... OMIM:613989
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... ORPHA:33355
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Glomeru... ORPHA:117
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Axonal degeneration, Peripheral hypomyelination, Peripheral demye... OMIM:604168
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, Lymphade... ORPHA:319552
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Hereditary Mucoepithelial Dysplasia
Hematuria, Recurrent respiratory infections, Pulmonary fibrosis, Abnormality of the bladder ORPHA:1839
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Abnormal EKG, Abnormality of the kidney, Nephrotic synd... ORPHA:85443
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Restrictive ventilatory defect, Pulmonary fibrosis, Joint contracture, E... OMIM:615704
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture... OMIM:619183
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increased circulating ... ORPHA:100024
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Acute Lung Injury
Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti... ORPHA:178320
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... OMIM:619126
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys... OMIM:215250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Macrogl... OMIM:242860
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... OMIM:619375
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic... OMIM:616433
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Sneddon Syndrome
Antiphospholipid antibody positivity, Facial palsy, Cerebral hemorrhage, Decreased circulating to... OMIM:182410
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary inters... ORPHA:77259
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Braddock Syndrome
Congenital muscular torticollis, Neonatal respiratory distress, Unilateral renal agenesis, Pulmon... ORPHA:52047
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... ORPHA:91139
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... ORPHA:90159
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... ORPHA:47
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... OMIM:613990
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... OMIM:618116
Myositis
Myositis OMIM:160750
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ... ORPHA:97244
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Periphe... OMIM:600882
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Pul... OMIM:612852
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Focal Myositis
Myositis ORPHA:48918
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Myopathy, Decreased circulating complement C3 concentr... ORPHA:79087
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Cough, ... ORPHA:454836
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... ORPHA:3260
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio... OMIM:604416
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... ORPHA:2137
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig... OMIM:617744
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Boutonneuse Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Vasculitis, Increased circulating IgG le... ORPHA:83313
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... OMIM:614455
Omenn Syndrome
Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Nephrotic... ORPHA:39041
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... OMIM:614034
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Amyloidosis, Familial Visceral
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination OMIM:221770
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp... OMIM:617388
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Eosinophilia, Eczema, Recurrent pneumonia, Hepatos... ORPHA:353298
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re... OMIM:619164
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial in... ORPHA:169090
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia... ORPHA:221
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Prolidase Deficiency
Chronic lung disease, Eczema, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurrent pneumonia, ... OMIM:170100
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disea... ORPHA:97362
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Epistaxis, Ocular albinism, Restrictive ventilatory defect, Pulmo... OMIM:614073
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Pulmonary fibrosis, Myocardial infarction ORPHA:457240
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Igg4-Related Kidney Disease
Rheumatoid factor positive, Renal interstitial immunoglobulin deposits, Lymphadenitis, Abnormal l... ORPHA:449395
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Increased circulating... ORPHA:1304
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Hypoxemia, Increased ci... ORPHA:284227
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Dyspnea, Congestive heart failure, Abnorm... ORPHA:35687
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... ORPHA:221139
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... ORPHA:209905
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wh... OMIM:620233
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Onion bulb formation, Facial palsy OMIM:607684
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Epistaxis, Ocular albinism, Hematochezia, Restrictive ventilatory defect, In... OMIM:203300
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Severe infection, Increase... OMIM:304790
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Microlissencephaly
Pneumonia ORPHA:1083
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Bronchiectasis, Recurrent ... ORPHA:477814
Eosinophilopenia
Autoimmunity OMIM:131430
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Recurrent viral infections, Autoimmune thrombo... ORPHA:293978
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Gaucher Disease
Pancytopenia, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory in... ORPHA:355
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulmona... ORPHA:99745
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnormal pulmonary i... OMIM:615486
Reactive Arthritis
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal p... ORPHA:29207
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Hemophag... OMIM:619858
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation OMIM:615284
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... OMIM:618347
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Severe... OMIM:615387
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Skeletal musc... ORPHA:90045
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... ORPHA:30
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:607250
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytop... ORPHA:51
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... ORPHA:1320
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Proteinuria, Splenomegaly, Abnormal pulmonary int... ORPHA:77261
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... ORPHA:70578
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Respiratory insuffici... ORPHA:375
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination OMIM:609033
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Dyspnea, Ocular albinism, Cardiomyop... ORPHA:79430
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Recurrent inf... OMIM:620184
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Glomerulopathy, Restrictive ventilatory de... ORPHA:36412
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, ... OMIM:619468
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Nephrocalcinosis, Glycos... OMIM:616026
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... OMIM:615561
Xq28 (MECP2) duplication
Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig... DECIPHER:45
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Cough, Dyspne... ORPHA:139402
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Increased cir... OMIM:617099
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud p... OMIM:607944
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Pulmonary fibro... OMIM:612199
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... OMIM:275350
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra... ORPHA:228123
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplen... OMIM:619013
Pseudo-Torch Syndrome 3
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... OMIM:618886
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Pearson Syndrome
Reticulocytosis, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Throm... ORPHA:699
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respiratory insufficiency, R... OMIM:607625
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Anemia ORPHA:1192
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1... ORPHA:98905
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc... OMIM:617575
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Recurrent pharyngitis, Leukocytosis, Myocard... ORPHA:829
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... ORPHA:760
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Conjunctival telangiectasia, Sinusitis, Recurrent b... OMIM:208900
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Melioidosis
Shock, Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin in... ORPHA:31202
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney ORPHA:369
Primary Intestinal Lymphangiectasia
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating... ORPHA:90362
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Recurrent infections, Gout, Focal segmental glomerulosclerosi... OMIM:617056
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalit... ORPHA:391487
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Weakness of fa... ORPHA:247691
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Patent ductus ar... OMIM:614576
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Abnormal immunoglobuli... OMIM:242900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, M... ORPHA:411634
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Axonal degeneration, Onion bulb formation, Decreased number of pe... OMIM:302800
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Splenomegaly, Ocular albinism, Abnormal pulmonary inters... OMIM:617050
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Leukocytosis, Myocarditis, Vasculiti... ORPHA:2331
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Acanthocytosis, Decr... ORPHA:14
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Tetrasomy 9P
Recurrent urinary tract infections, Myositis, Pericarditis, Raynaud phenomenon, Horseshoe kidney,... ORPHA:3310
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... ORPHA:340
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid... ORPHA:57
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Majeed Syndrome
Glomerulopathy, Proteinuria, Cachexia, Congenital hypoplastic anemia, Microscopic hematuria, Sple... ORPHA:77297
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Recurrent ... ORPHA:309288
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... ORPHA:97287
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:230800
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Urethral stenosis, Horseshoe kidney,... OMIM:305000
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ... OMIM:619147
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertensio... OMIM:615688
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sin... OMIM:251260
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Vici Syndrome
Recurrent viral infections, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG... OMIM:242840
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Autoimmunity, Portal hypertension, Reduced forced... OMIM:613385
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Decreased circulating complement factor B concentration, Increased circul... ORPHA:2298
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... OMIM:256850
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos... ORPHA:213
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematochezia, Nephrotic ... OMIM:615846
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Shigellosis
Acute colitis, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethrit... ORPHA:810
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma... OMIM:218000
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Abnormality of the kidney, C... ORPHA:449432
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Nephrotic range proteinuria, Abnormali... ORPHA:544482
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Ret... ORPHA:88
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Peripheral hypomyelination, Myelin outfol... OMIM:609136
Free Sialic Acid Storage Disease
Splenomegaly, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria ORPHA:834
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventil... OMIM:620326
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... OMIM:253700
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ... OMIM:601005
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Splenomegaly, Myocarditis, Vasculitis, Antinuclear antibody positivity, Abnor... ORPHA:50918
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:99948
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... OMIM:308940
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Recurrent infections, ... ORPHA:90363
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... ORPHA:662
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:66628
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... ORPHA:251004
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... ORPHA:1302
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... OMIM:557000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... ORPHA:2590
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lower limb muscle weakness, Lymphadeni... ORPHA:449427
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:179494
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Chronic pulmonary obstruction, Recurrent tonsil... OMIM:619223
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... ORPHA:158061
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Splenomega... OMIM:256550
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hematuria, Abnormality of... ORPHA:91547
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... ORPHA:74
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Abnormality ... ORPHA:29073
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Chronic lung disease, Severe B lymphocytopenia, Acute respiratory ... OMIM:620005
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Seps... OMIM:617053
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Patent... OMIM:612541
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C... ORPHA:2357
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Fanconi Anemia, Complementation Group F
Pneumonia, Patent ductus arteriosus, Renal hypoplasia, Anemia, Leukopenia, Microphallus, Bone mar... OMIM:603467
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Renal insufficiency, Elevated circulating creatine kinase concentra... ORPHA:99826
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxid... ORPHA:228426
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... OMIM:210900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened... OMIM:619487
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper... OMIM:607143
Rift Valley Fever
Skin rash, Hematemesis, Severe viral infection, Hepatitis, Uveitis, Retinal hemorrhage, Hematuria... ORPHA:319251
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Leukocyte Adhesion Deficiency Type Ii
Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Chronic lymphocytic menin... ORPHA:99843
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r... ORPHA:85414
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart... ORPHA:508542
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated... OMIM:251900
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Meningitis, Stage ... OMIM:249100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Abnormal... ORPHA:2072
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination ORPHA:168563
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating total IgG, Sp... OMIM:300972
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Nephrot... OMIM:617303
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration ORPHA:90103
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... OMIM:233450
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... ORPHA:70588
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy OMIM:162400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... ORPHA:99827
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Peripheral demyelination OMIM:252160
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Hepatosplenomegaly, Decreased circ... ORPHA:79330
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... OMIM:602668
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Increased circulating IgG level, Tub... ORPHA:91500
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Peripheral demyelination OMIM:252150
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Keratitis, Dyspne... ORPHA:1018
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Sepsis, Renal cyst, Gastrointestinal inflammation, Apla... ORPHA:79404
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... OMIM:255125
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:600901
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormal lung morphology, ... ORPHA:54251
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227650
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Yellow Fever
Shock, Renal insufficiency, Neutrophilia, Anuria, Increased circulating interleukin 6 concentrati... ORPHA:99829
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Abnormality of the kidney, Cholangitis... ORPHA:449563
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... OMIM:270550
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Smith-Kingsmore Syndrome
Diastasis recti, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Hypote... ORPHA:2135
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter ORPHA:79282
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Cardiomyopathy, P... OMIM:212065
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Flexion contracture, Abnormal medullary pyramid morphology, Recurr... ORPHA:79243
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... ORPHA:254930
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Facial palsy, Hypercapnia, Respira... ORPHA:79138
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227645
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Bone marrow hypocellular... ORPHA:549
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Increased ... ORPHA:505248
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Hypospadias, Diastasis recti, Decreased circulating IgA level ORPHA:457485
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Renal insufficiency, Abnormal eosinophil morphology, Auto... ORPHA:171
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia OMIM:301500
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Microcytic anemia, Fl... OMIM:256040
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... ORPHA:79240
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... ORPHA:298
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy... OMIM:619167
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, St... OMIM:212750
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Neutrophilia, Pulmonary edema, Facial palsy, Menin... ORPHA:79139
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Eczema, Recurrent infections, Acute lymphoblastic leukemia, Hypopla... OMIM:223370
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed myelination, Neurofibroma, Peripheral demyelination, Leukodystrophy OMIM:619475
Tick-Borne Encephalitis
Skeletal muscle atrophy, Facial palsy, Meningitis, Leukocytosis, Unusual CNS infection, Increased... ORPHA:297
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria ORPHA:86818
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmon... OMIM:613658
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, Dyspnea, Flexion contracture, Pn... ORPHA:99921
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia ORPHA:431361
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Prol... ORPHA:26793
Gm1 Gangliosidosis
Recurrent respiratory infections, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus... ORPHA:354
Glycogen Storage Disease Ib
Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232220
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Exerci... OMIM:201475
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Renal agen... ORPHA:124
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Recurrent urinary tract infections, Pancytopenia, Facial hypotonia, Pneumon... ORPHA:309282
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227646
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias ORPHA:2522
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, F... OMIM:253200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, ... ORPHA:95455
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Elbow contracture, Allergic rhinitis, Patent ductus arteriosus, Asthma, Knee flexion cont... OMIM:618162
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropa... ORPHA:466768
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia, Renal du... OMIM:613309
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Facial palsy, Pneumonia, Pustule, Respira... ORPHA:68
Cholera
Tachycardia, Abnormality of renal excretion, Tachypnea, Hypovolemic shock, Aspiration pneumonia, ... ORPHA:173
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, Nephrocalcinosis, D... ORPHA:369837
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Failure to thrive, Anemia ORPHA:90321
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infi... ORPHA:83617
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, ... ORPHA:2237
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hyperlipidemia, Hematuria, Focal segmental ... OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chronic kidney di... ORPHA:79259
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Impaired T cell function, Allergic rhinitis, Recurrent viral infections, Allergic co... OMIM:176690
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Nephrot... OMIM:251300
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Diaphragmatic eventration, Hyposp... OMIM:619488
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Re... ORPHA:333
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Iron deficiency ... ORPHA:358
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Pneumonia, Abnormal re... OMIM:122470
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Gaucher Disease, Type Ii
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... OMIM:230900
Chops Syndrome
Tracheomalacia, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Anomalous pulmonary ven... OMIM:616368
Ohdo Syndrome
Proteinuria OMIM:249620
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Hypoplasia of the musculature, Ankle flexion c... ORPHA:2020
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, ... OMIM:188400
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Autoimmune antibody positivity, Intraalveolar phospholip... ORPHA:747
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hypersplenism, S... ORPHA:77293
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... ORPHA:534
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Heparan sulfate excretion in urine, Splenomegaly, Respiratory... ORPHA:581
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux... ORPHA:567
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Urinary glycosaminoglycan excretion, Aspiration... ORPHA:79255
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... ORPHA:49041
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis OMIM:300519
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Obesity OMIM:619471
Liver Disease, Severe Congenital
Chronic gastritis, Sepsis, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Lymphoc... OMIM:619991
Velocardiofacial Syndrome
Pulmonary artery atresia, Unilateral primary pulmonary dysgenesis, Impaired T cell function, Recu... OMIM:192430
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia, Iris coloboma OMIM:300472
Knobloch Syndrome 2
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph... OMIM:618458
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Melas
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy, Failure to th... ORPHA:550
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Monosomy 18Q
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Ao... ORPHA:1600
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia ORPHA:536
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... OMIM:214100
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin... ORPHA:99949
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... ORPHA:324
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Weight loss, Renal tubul... ORPHA:99885
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia ORPHA:35069
Plague
Respiratory distress, Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Splenomegaly, Lympha... ORPHA:707
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:133540
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:216400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti... ORPHA:397715
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Proteinuria, Hypertriglyceridemia ORPHA:79086
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, Hematuria, Nephrot... ORPHA:2035
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... OMIM:208500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Flexion con... OMIM:301072
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Flexion contracture, Urinary urgency... ORPHA:99027
Agel Amyloidosis
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Car... ORPHA:353281
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Mitral regurgitation OMIM:617809
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Hepatosplenomegaly, Aspi... ORPHA:845
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the ... ORPHA:2162
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Abscess, Chronic ... ORPHA:642
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Optic atrophy ORPHA:99956
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Marshall-Smith Syndrome
Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Premature ventricu... OMIM:602535
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... ORPHA:280633
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Coffin-Siris Syndrome
Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Horseshoe ki... ORPHA:1465
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator... OMIM:619482
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of... ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Tracheomalacia, Congestive heart failure, Patent ductus arteriosus, Asthma, Horsesho... ORPHA:444077
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Eczema, Dyspnea, Patent ductus arteriosus, Increased circ... OMIM:619472
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... OMIM:616268
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Opitz Gbbb Syndrome
Hypospadias, Congenital diaphragmatic hernia, Tracheomalacia, Patent ductus arteriosus, Stridor, ... ORPHA:2745
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c OMIM:619127
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Splenomegaly,... OMIM:619525
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thr... OMIM:147920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity OMIM:619269
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Patent ductus arteriosus, Nephrolithiasis, Aspir... ORPHA:438213
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Aplasia/Hypoplasia of the abdomin... ORPHA:646
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypospadias, Pneumonia, Long penis, Flexion contracture, Hypopl... OMIM:264090
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Nephrocalcinosis, Abnorm... ORPHA:79500
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:2388
Alobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart rate variability, Aspiration pneumonia, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart rate variability, Aspiration pneumonia, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart rate variability, Aspiration pneumonia, Abnorm... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart rate variability, Aspiration pneumonia, Abnorm... ORPHA:220386
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Proteinuria, Angina pectoris, In... ORPHA:79318
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Yunis-Varon Syndrome
Hypospadias, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension,... OMIM:216340

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 Cd59a

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 Cd59a.

No publications found that use IMPC mice or data for Cd59a.

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