Gene Summary

three prime repair exonuclease 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.74% (4 of 537)
aorta 0.19% (1 of 528)
blood vessel 0.0%
bone 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
peripheral nervous system 0.19% (1 of 520)
peyer's patch 0.64% (1 of 156)
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
uterus 0.38% (2 of 527)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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



7 Images

Legacy Phenotype Associated Images

View all 103 images

Human diseases caused by Trex1 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 Trex1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Trex1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity OMIM:216950
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis, Pyoderma gangrenosum OMIM:619986
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... OMIM:613652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Decreased serum complement C3, Complemen... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic... OMIM:603909
Chilblain Lupus 1
Skin ulcer, Antinuclear antibody positivity, Chilblains OMIM:610448
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Autoimmune hemolytic anemia, Pneumonia OMIM:247800
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EM... ORPHA:206569
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... OMIM:618534
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Alopecia, Recurrent sinusitis, Decreased circulating antibody level, R... OMIM:616576
Complement Component 4A Deficiency
Systemic lupus erythematosus, Decreased serum complement C4, Vasculitis, Glomerulonephritis, Redu... OMIM:614380
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Antinuclear antibo... OMIM:152700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Antiphospholipid anti... ORPHA:90280
Myositis OMIM:160750
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Decreased serum complement C4, Diarrhea, Hematuria, Vomiting, Prote... ORPHA:93552
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Eczema, Atroph... OMIM:616100
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Increased circulating IgE lev... OMIM:610163
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Decrease... OMIM:613496
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Autoimmune antibody positivity, I... ORPHA:3386
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased circulating antibo... OMIM:618108
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Pulmonary infiltrates, Leukocytosis, Splenomegaly,... OMIM:209950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Reticular pattern on pulmonary HRCT, Heart murmur, Grou... ORPHA:99931
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscle weakness, ... OMIM:253600
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... OMIM:619079
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Drug Reaction With Eosinophilia And Systemic Symptoms
Pulmonary infiltrates, Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failu... ORPHA:139402
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... ORPHA:3261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Vasculitis, Arthritis, Increased circulating... ORPHA:37748
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuri... ORPHA:781
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Increased inflammatory... ORPHA:183
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... OMIM:161900
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, S... OMIM:615934
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Abnormal renal physiology, Abnormality of the kidney, Antinuclear a... OMIM:609939
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Vomiting, Anti-thyroid peroxidase antibod... ORPHA:37042
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum c... ORPHA:449395
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... ORPHA:829
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Diarrhea, Recurrent urinary tract... OMIM:618495
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema, Pruritus ORPHA:2337
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
Simple Cryoglobulinemia
Stroke, Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positiv... ORPHA:91139
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:256020
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Xerostomia, Myositis, Myocarditis, Aortic regurgitation, A... ORPHA:81
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Ground-glass opacification, ... OMIM:619773
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis ORPHA:565899
Systemic Sclerosis
Anti-centromere antibody positivity, Alopecia, Myocarditis, Proteinuria, Pruritus, Pericarditis, ... ORPHA:90291
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ... ORPHA:499
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacyt... ORPHA:60026
Mixed Connective Tissue Disease
Hepatomegaly, Gastritis, Skin rash, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myosit... ORPHA:809
Catastrophic Antiphospholipid Syndrome
Anti-beta 2 glycoprotein I antibody positivity, Angina pectoris, Antiphospholipid antibody positi... ORPHA:464343
Legionnaires Disease
Pancreatitis, Diarrhea, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone mar... ORPHA:549
C3 Glomerulopathy 3
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:614809
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Complement deficiency, Diarrhea, Hematuria, Uveitis, Proteinuri... ORPHA:36412
Scrub Typhus
Skin rash, Splenomegaly, Hypotension, Anterior uveitis, Myocarditis, Infectious encephalitis, Ren... ORPHA:83317
Keratitis, Anti-centromere antibody positivity, Alopecia, Myocarditis, Uveitis, Pruritus, Pericar... ORPHA:801
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Pulmonary ... ORPHA:277
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of t... ORPHA:99867
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level, Hematuria OMIM:314000
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Gastrointesti... ORPHA:2137
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl... OMIM:607665
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhea, Increased cir... ORPHA:83313
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea... ORPHA:85450
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Complement Factor I Deficiency
Decreased serum complement factor H, Decreased serum complement factor B, Recurrent skin infectio... OMIM:610984
Takayasu Arteritis
Arterial stenosis, Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Abnormal patter... ORPHA:3287
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Respiratory insufficiency, Hematuria, Vasculitis, Arthritis, Cough, Autoim... ORPHA:375
Focal Myositis
Myositis ORPHA:48918
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammation of th... OMIM:608809
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin le... ORPHA:90159
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Immunodeficiency 104
Hepatomegaly, Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Lymphadenopathy, B ly... OMIM:618048
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Skin rash, Maculopapular exanthema, Myositis, Erysipelas, Vomiting, Chronic diarr... OMIM:142680
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Pulmonary hemorrhage, Arthritis, Crescentic glomerulonephritis, Antin... OMIM:616414
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:608709
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa... OMIM:619644
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Female infertility, Chronic sinusitis, Pol... ORPHA:244
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... OMIM:235550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Alopecia, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, V... OMIM:304790
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Nephrotic syndrome, Constipation, Aplasia/Hypoplasia... ORPHA:3099
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin OMIM:113800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Methylmaloni... OMIM:251000
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Vascu... ORPHA:1572
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... OMIM:607271
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Erythema, Rheumatoid factor positive,... ORPHA:79099
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Decreased circulating Ig... OMIM:614700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:613913
Respiratory distress, Otitis media, Cervical lymphadenopathy, Pneumonia, Inflammatory abnormality... ORPHA:3392
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Rheumatoid factor po... ORPHA:443811
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Ly... OMIM:618935
Complement Component 2 Deficiency
Purpura, Systemic lupus erythematosus OMIM:217000
Hepatomegaly, Rheumatoid factor positive, Vomiting, Myocarditis, Epididymitis, Pulmonary granulom... ORPHA:1304
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Abnormal mitral valve morphology, Hepatomegaly, Constipation, Myocardial infarction, Gastrointest... ORPHA:732
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Dysphagia, Myocarditis ORPHA:2724
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Parenchymal consolidation... ORPHA:2902
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... OMIM:602390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hepatomegaly, Stroke, Splenomegaly, Renal insufficiency, Neut... ORPHA:79312
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hem... ORPHA:444463
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Bacterial Toxic-Shock Syndrome
Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Recurre... ORPHA:36234
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Stroke, Eczema, Pancytopenia, Bone marrow hypocellularity, Lupus anticoagulant, Ren... OMIM:615688
Cap Polyposis
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis ORPHA:160148
Acute Interstitial Pneumonia
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Respiratory failure, Inter... ORPHA:79126
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Diarrhea, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased cir... ORPHA:276
Rat-Bite Fever
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... ORPHA:31205
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi... ORPHA:91138
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Cystic Echinococcosis
Hepatomegaly, Multiple pulmonary cysts, Abscess, Peritoneal abscess, Abnormality of the pancreas,... ORPHA:400
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Diarrhea, Arrhythmia, Hematuria, Vasculitis, Art... ORPHA:727
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Stroke, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Protein... ORPHA:1830
Muckle-Wells Syndrome
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Vasculitis, Arthritis, Uv... ORPHA:575
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Rhe... ORPHA:227990
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia,... OMIM:269840
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... ORPHA:227982
Drug-Induced Lupus Erythematosus
Decreased serum complement C3, Decreased serum complement C4, Antinuclear antibody positivity, He... ORPHA:231111
Systemic Capillary Leak Syndrome
Pancreatitis, Abnormal renal tubule morphology, Diarrhea, Arrhythmia, Myocarditis, Hypotension, O... ORPHA:188
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Abnormal sperm morphology, ... ORPHA:228123
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macrophage morphology... ORPHA:292
Lead Poisoning
Constipation, Vomiting, Abnormal T cell morphology, Hypertension, Abnormal sperm morphology, Decr... ORPHA:330015
Myasthenia Gravis
Systemic lupus erythematosus, Raynaud phenomenon, Anti-muscle-specific tyrosine kinase antibody, ... ORPHA:589
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Decreased circulating antibody level OMIM:300988
Eosinophilic Fasciitis
Muscular edema, Fasciitis, Myositis, Arthritis ORPHA:3165
Pemphigus Foliaceus
Pustule, Erythema, Autoimmunity, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr... ORPHA:79481
Skin rash, Arthritis, Pruritus, Skin ulcer, Recurrent cutaneous abscess formation ORPHA:231
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased circu... OMIM:614328
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Hemophagocytosis, Decreased glomerular filtration rate, Steatorrhea, ... ORPHA:470
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Hepatojugular ... ORPHA:2302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun... ORPHA:85414
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Consti... ORPHA:93672
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tubulointerstitial n... OMIM:614582
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Systemic lupus erythematosus, Excessive skin wrinkling on dorsum of hands and ... ORPHA:498359
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Decreased response to growth hormone s... OMIM:203800
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Recurrent respiratory infections, Cong... ORPHA:796
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Crescentic glomerulonep... ORPHA:93126
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower lim... ORPHA:99845
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis, Pruritus ORPHA:280785
Membranoproliferative Glomerulonephritis, X-Linked
Cardiac shunt, Membranoproliferative glomerulonephritis OMIM:305800
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatitis, Subar... OMIM:243700
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Respiratory insufficiency, Cough, Hemoly... ORPHA:108
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Myositis, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Panniculitis OMIM:619183
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Intestinal obstruction, Increased ci... ORPHA:449400
Chronic Actinic Dermatitis
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:618348
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Whipple Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myositis, Myocarditis, Pericarditis, Art... ORPHA:3452
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, High palate, High, narrow palate, Renal insufficiency OMIM:248760
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circu... OMIM:619510
Carcinoid Syndrome
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Palpit... ORPHA:100093
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Waldenström Macroglobulinemia
Pulmonary infiltrates, Hepatomegaly, Stroke, Splenomegaly, Cryoglobulinemia, Respiratory insuffic... ORPHA:33226
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Coronary artery atherosclerosis, Secondar... ORPHA:2348
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Diarrhea, Vomiting, Uveitis, Abnormal myocardium morphology, Pericarditis, Splenome... ORPHA:32960
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease, High palate ORPHA:2172
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema, Increased circulating IgE level OMIM:147050
Netherton Syndrome
Sparse scalp hair, Malabsorption, Aminoaciduria, Skin rash, Sparse eyebrow, Sparse eyelashes, Ecz... ORPHA:634
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Diarrhea, Vasculitis, Inc... OMIM:617099
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Dupuytren contracture, Maculopap... ORPHA:39812
Felty Syndrome
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splenomegaly,... ORPHA:47612
Granulomatosis With Polyangiitis
Angina pectoris, Pancreatitis, Otitis media, Hematuria, Increased inflammatory response, Proteinu... ORPHA:900
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:616730
Familial Mediterranean Fever
Pancreatitis, Constipation, Diarrhea, Myocardial infarction, Proteinuria, Pericarditis, Nephrotic... ORPHA:342
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling ORPHA:228240
Netherton Syndrome
Sparse scalp hair, Decreased circulating IgG level, Intestinal atresia, Brittle hair, Sparse eyeb... OMIM:256500
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Corneal neovascularization, Antinucl... OMIM:617388
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Foam cells, Decreased proportion of CD4+CD25+ regulatory T ce... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransfera... OMIM:619386
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Peeling Skin Syndrome 1
Brittle hair, Nail dystrophy, Pruritus, Erythroderma, Increased circulating IgE level OMIM:270300
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sudden cardiac death, Hematochezia, Prolonged bleeding time, Ble... ORPHA:906
Pityriasis Rubra Pilaris
Erythroderma, Eczema, Pustule, Pruritus ORPHA:2897
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting... ORPHA:340
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Nephrotic syndrome, Gastritis, Hypospadias, Diarrhea, Glandular hypospadias ORPHA:2575
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Prim... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alani... OMIM:618805
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... OMIM:615067
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegal... OMIM:618999
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... ORPHA:117
Quinquaud Folliculitis Decalvans
Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo... ORPHA:346
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Chronic oral candidiasis, Hepatomegaly, Skin rash, Decreased cir... OMIM:300400
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Skin rash, Flexion contracture, Myositis, Arthri... OMIM:617591
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Wiskott-Aldrich Syndrome, Autosomal Dominant
Otitis media, Eczema, Diarrhea, Decreased mean platelet volume, Pneumonia, Large vessel vasculiti... OMIM:600903
Kikuchi-Fujimoto Disease
Hepatomegaly, Vasculitis in the skin, Cervical lymphadenopathy, Myocarditis, Enlargement of parot... ORPHA:50918
Dermatitis, Atopic
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic... OMIM:603165
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Postinfectious Vasculitis
Unusual gastrointestinal infection, Vasculitis in the skin, Rheumatoid factor positive, Hematuria... ORPHA:48435
Relapsing Polychondritis
Keratitis, Alopecia, Hematuria, Myocarditis, Uveitis, Proteinuria, Anteriorly placed anus, Perica... ORPHA:728
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Immunodeficiency 23
Asthma, Lymphopenia, Vasculitis in the skin, Eczema, Membranoproliferative glomerulonephritis, Ab... OMIM:615816
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Co... OMIM:269920
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Melena, Pancreatitis, Gastritis, Diarrhea, Vomiting, Acute infectious pneumonia, Myocarditis, Hem... ORPHA:73263
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Respiratory insufficiency, Macrocytic anemia, Renal insuf... ORPHA:27
Igg4-Related Retroperitoneal Fibrosis
Constipation, Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid peroxidas... ORPHA:49041
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
African Iron Overload
Abnormal heart morphology, Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Vi... ORPHA:139507
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Autoimmunity, Pruritus ORPHA:454
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... ORPHA:51636
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Thickened glomerular basement membrane, Nail ... OMIM:609057
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Respiratory distress, Pancreatitis, Neutrophilia, Vasculitis in the ... ORPHA:3260
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Generalized seborrheic dermatitis, Intractable diarrhea, D... OMIM:609536
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... OMIM:251880
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Necrotizing enterocolitis, Sudden car... OMIM:201475
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lamblia infest... OMIM:615577
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnor... OMIM:602450
Immunodeficiency 31C
Eczema, Diarrhea, Villous atrophy, Autoimmunity, Chronic mucocutaneous candidiasis, Autoimmune he... OMIM:614162
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs ORPHA:3327
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Erosive Pustular Dermatosis Of The Scalp
Scarring alopecia of scalp, Abnormal hair morphology, Pustule ORPHA:222
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Type IV atherosclerotic lesion, Menometro... ORPHA:90970
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Large vessel vasculitis, Prolonged blee... OMIM:301000
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Enlarged kidney, Thrombocytopenia, Proteinuria, Bone marrow h... OMIM:617303
Systemic Lupus Erythematosus 17
Optic neuritis, Systemic lupus erythematosus, Alopecia, Raynaud phenomenon, Mitral regurgitation,... OMIM:301080
Aicardi-Goutieres Syndrome 1
Antiphospholipid antibody positivity, Hepatomegaly, Splenomegaly, Chilblains, Vasculitis, Hypothy... OMIM:225750
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Diarrhea, Vasculitis, Arthritis, Inte... ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Hypospadias, Micropenis, Alopecia OMIM:618840
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Diarrhea, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Increased circul... OMIM:615846
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, De... OMIM:606367
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Splenic abscess, Acute colitis, Leukocytosis, Hepatic failure, Hypovolemic shock, Urethritis, Per... ORPHA:810
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Combined Immunodeficiency Due To Zap70 Deficiency
Stroke, Lymphadenitis, Pneumonia, Absence of CD8-positive T cells, Recurrent upper and lower resp... ORPHA:911
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Increased circulating IgA level, Xerostomia, Antinuclear ... ORPHA:79078
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer ORPHA:312
Hematuria, Anti-dsDNA antibody positivity, Proteinuria, Pneumonia, Pancytopenia, Systemic lupus e... ORPHA:1855
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... OMIM:619487
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Stag... OMIM:616629
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Pulmonary embolism, Abnormal glo... ORPHA:567548
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Decreased circulating IgA level, Chronic oral candidiasis, Decreased c... ORPHA:275
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic ... OMIM:301006
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Arrhythmia, Cystic renal dys... ORPHA:228308
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Glossitis, Pneumonia, ... ORPHA:2552
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Situs inversus totalis, Atelectasis, Male infertility, Ch... OMIM:244400
Ciliary Dyskinesia, Primary, 29
Infertility, Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recur... OMIM:615872
Kawasaki Disease
Cheilitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pulm... ORPHA:2331
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, ... OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Atelectasis, Bronchie... OMIM:619466
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Right ... ORPHA:70589
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Pruritus, Epistaxis ORPHA:46488
Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis, Unusual skin infection, Osteomy... ORPHA:533
Bullous Pemphigoid
Erythema, Eczema, Autoimmunity, Psoriasiform dermatitis ORPHA:703
Juvenile Arthritis
Antinuclear antibody positivity, Skin rash OMIM:618795
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Peripheral arteriovenous fistula, Respiratory insufficiency, ... ORPHA:90308
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Yao Syndrome
Nephrolithiasis, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Diarrhea, Keratocon... OMIM:617321
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hepatomegaly, Coronary artery atherosclerosis, Hypertension, Hepatic steatosis ORPHA:79084
Immunodeficiency 58
Dysuria, Colitis, Eczema, Chronic otitis media, Helicobacter pylori infection, Decreased specific... OMIM:618131
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertens... ORPHA:391487
Bronchogenic Cyst
Abnormal pericardium morphology, Abnormal pleura morphology, Abnormality of the peritoneum, Cough... ORPHA:2357
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Pulmonary infiltrates OMIM:235900
Omenn Syndrome
Nephrotic syndrome, Alopecia, Aplasia/Hypoplasia of the eyebrow, Autoimmunity, Pneumonia, Pruritu... ORPHA:39041
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Right atrial enlargement, Restrictive... OMIM:619313
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Hematuria, Vomiting, ... ORPHA:90068
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... OMIM:616726
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin OMIM:146700
Propionic Acidemia
Apnea, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyperglycinuria, Constipation, Eczema, ... OMIM:606054
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Inflammatory abnormality of the skin, Pancreatitis, Vacuolated lymphocytes, Hepa... ORPHA:565612
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... OMIM:235200
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Respiratory distress, Pancreatitis, Hepatomegaly, Renal insufficiency,... ORPHA:289916
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Arrhythmia, Hemolytic anemia... ORPHA:98375
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Restrictive ve... OMIM:614376
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Abnormal pleura morphology, Abnormal card... ORPHA:797
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Punctate keratitis, Absent eyelashes, Erythr... OMIM:602540
Lujo Hemorrhagic Fever
Odynophagia, Skin rash, Maculopapular exanthema, Fulminant hepatitis, Diarrhea, Vomiting, Myocard... ORPHA:319213
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Arrhythmia, Cystic renal dys... ORPHA:157
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Allergic rhinitis, Autoimmunity OMIM:131430
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule, Septic arthritis ORPHA:36237
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Sclerosing ... ORPHA:562639
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis,... OMIM:306400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circ... OMIM:619048
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Leigh Syndrome With Nephrotic Syndrome
Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Episodic vomiting, Renal cyst, Tub... ORPHA:255249
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Malabsor... OMIM:240300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Wolff-Parkinson-White syndrome, Decreased circulating IgG level, Tricuspid regur... OMIM:619705
Renal insufficiency, Sudden cardiac death, Myositis, Recurrent cutaneous abscess formation ORPHA:764
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Erythema Elevatum Diutinum
Increased circulating antibody level, Vasculitis in the skin, Skin rash ORPHA:90000
Colchicine Poisoning
Alopecia, Hypovolemia, Diarrhea, Arrhythmia, Cardiogenic shock, Myocarditis, Hypotension, Oliguri... ORPHA:31824
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Decreased serum complement C4,... ORPHA:90060
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus, Alopecia ORPHA:79394
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Ventricular s... OMIM:610978
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Flexion contracture, Recurrent skin infections ORPHA:79503
Thymic Tumor
Autoimmunity, Dysgammaglobulinemia, Dysphagia, Pericarditis, Cardiac arrest ORPHA:100100
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... OMIM:618204
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri... OMIM:614817
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Recurrent skin infections, Alopecia, Eczema, Atopic dermatitis, Chronic mucocutaneou... OMIM:618282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis, Pruritus, Alopecia of scalp OMIM:608649
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Gastritis, Woolly hair, Brittle hair, Hepat... ORPHA:84064
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal heart morphology, Decreased liver function, Hepatomegaly, Ethylmalonic aciduria, 3-Methy... ORPHA:26791
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Idiopathic Camptocormia
EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammatory response, Myelitis, Myositis,... ORPHA:1320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Gitelman Syndrome
Respiratory distress, Graves disease, Constipation, Diarrhea, Gout, Proteinuria, Primary hyperald... ORPHA:358
Pediatric-Onset Graves Disease
Keratitis, Graves disease, Hepatomegaly, Sinus tachycardia, Increased circulating free T3, Diarrh... ORPHA:525731
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatomegaly, Anisocytosis, Diarrhea, Ventricular hypertrophy,... OMIM:618278
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Sézary Syndrome
Alopecia, Abnormal immunoglobulin level, Pruritus, Nail dystrophy, Erythroderma, Skeletal muscle ... ORPHA:3162
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Eczema, Lymphadenitis, Inflammation of the large intest... OMIM:615895
Congenital Pancreatic Cyst
Vomiting, Pancreatitis, Jaundice ORPHA:313906
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Abnormality of the kid... ORPHA:228119
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, Pneumonia, Osteomyelitis, Colitis, Decreas... OMIM:619381
Endocardial Fibroelastosis
Hypoplasia of penis, Restrictive cardiomyopathy, Anterior hypopituitarism, Endocardial fibroelast... ORPHA:2022
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Anterior uveitis, Ileal ulcer, Lupus anticoagulant, Antinuclear antibody posi... OMIM:616744
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine output, Abnormality of ... ORPHA:544482
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency