Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenit... |
OMIM:614328 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis |
OMIM:618985 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis |
OMIM:269650 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... |
OMIM:619281 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract |
OMIM:137100 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased... |
OMIM:618108 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... |
OMIM:300310 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Reduced delaye... |
OMIM:617241 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infection of the gast... |
OMIM:605258 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Diar... |
ORPHA:277 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral... |
OMIM:300400 |
Kimura Disease |
|
Increased circulating IgE level, Abnormal salivary gland morphology |
ORPHA:482 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta... |
OMIM:618982 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Abdominal pain, Complement deficiency, Intestinal obstructi... |
ORPHA:449400 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Macroglossia, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increa... |
OMIM:618523 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou... |
OMIM:256500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr... |
OMIM:209920 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... |
OMIM:608809 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Tube feeding, Decreased circulating IgG level, Oligoarthritis, D... |
OMIM:619510 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract |
OMIM:609529 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Diarrhea, Failure to thrive, Recurrent otitis media |
OMIM:613501 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
OMIM:618534 |
Agammaglobulinemia 5, Autosomal Dominant |
|
High palate, Agammaglobulinemia |
OMIM:613506 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Increased circulating IgM level, Increased circulating IgG level, Recurrent otiti... |
OMIM:619220 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Malabsorption, Sinusitis, Macroglossia, Diarr... |
OMIM:242860 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... |
OMIM:243700 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:607271 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Arthritis, Intestinal obs... |
ORPHA:343 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Colitis, Decreased circulating antibody level, Recurrent... |
OMIM:613101 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... |
ORPHA:555905 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 14A, Autosomal Dominant |
|
Bronchiectasis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level,... |
OMIM:615513 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec... |
OMIM:600351 |
Immunodeficiency 27A |
|
Anorexia, Diarrhea, Increased circulating IgG level, Increased inflammatory response, Increased c... |
OMIM:209950 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Angiostrongyliasis |
|
Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... |
ORPHA:74 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis |
OMIM:615190 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea |
OMIM:615592 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulatin... |
ORPHA:33355 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... |
OMIM:308230 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneum... |
OMIM:147060 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chro... |
OMIM:304790 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ... |
OMIM:618213 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Episodic vomiting, Reduced natural killer cell activ... |
OMIM:616050 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
OMIM:616100 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... |
OMIM:613662 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:619752 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Abdominal pain, Skin rash, Diarrhea, Increased circulating IgM l... |
OMIM:617099 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In... |
OMIM:618048 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Feeding difficulties, Pyloric stenosis, Bilat... |
OMIM:616395 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Diarrhea, Panhypogammaglobulinemia, Pneumonia |
OMIM:269840 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:619824 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... |
ORPHA:411696 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level,... |
OMIM:618495 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody... |
ORPHA:90003 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia |
OMIM:152800 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection |
ORPHA:2688 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Aplasia of the eccrine sweat gla... |
OMIM:300291 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:601859 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Recurr... |
OMIM:614700 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 58 |
|
Bronchiectasis, Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, ... |
OMIM:618131 |
Netherton Syndrome |
|
Malabsorption, Skin rash, Eczema, Decreased circulating antibody level, Erythroderma, Increased c... |
ORPHA:634 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607594 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy |
OMIM:618987 |
Boutonneuse Fever |
|
Abdominal pain, Skin rash, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, Na... |
ORPHA:83313 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Nephritis, Malar rash, Increased circulating IgG level, Decrease... |
OMIM:603909 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Abdominal pain, Complement deficiency, Monoclonal elevation of circul... |
ORPHA:91139 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Weight loss, Abnormality of the gastrointestinal tract, Atopic d... |
ORPHA:2902 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Decreased circulating antibody level |
ORPHA:99811 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia... |
OMIM:601457 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... |
OMIM:613500 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Uveitis, Pun... |
OMIM:617388 |
Lassa Fever |
|
Abdominal pain, Diarrhea, Increased circulating IgM level, Dysphagia, Nausea and vomiting, Conjun... |
ORPHA:99824 |
Pgm3-Cdg |
|
High palate, Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomy... |
ORPHA:443811 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio... |
OMIM:617744 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... |
OMIM:615577 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ... |
ORPHA:2137 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Failure to thrive, Decreased circulating IgA level, Constipation, Decreased circulat... |
OMIM:617062 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... |
ORPHA:26790 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... |
OMIM:619802 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Cirrhosis, Familial |
|
Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... |
ORPHA:37042 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Increased circulating IgE level |
OMIM:270300 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine, Dysgammaglobulinemia, Abdominal pain |
ORPHA:100025 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatic failure, Fulminant hepatitis, Reduced natural killer cel... |
OMIM:308240 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feedin... |
DECIPHER:45 |
Immunodeficiency 23 |
|
High palate, Failure to thrive, Eczema, Membranoproliferative glomerulonephritis, Increased circu... |
OMIM:615816 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Chronic oral candi... |
ORPHA:275 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Abdominal distention, Hepatic failure, Hepatocellular carcinoma,... |
ORPHA:186 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media |
OMIM:312863 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ... |
OMIM:301000 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Otitis media, Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Chro... |
OMIM:602450 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusit... |
OMIM:102700 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:616005 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Multiple Myeloma |
|
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... |
ORPHA:29073 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... |
ORPHA:33110 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
ORPHA:859 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Cryptorchidism, Increased circulating IgE level |
ORPHA:3409 |
O'Sullivan-Mcleod Syndrome |
|
Atrophy of the spinal cord, Tremor, Fasciculations, Eosinophilia |
ORPHA:99965 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG... |
OMIM:615934 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:562639 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... |
ORPHA:2198 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... |
ORPHA:276 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circulating IgM leve... |
ORPHA:448237 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co... |
ORPHA:449432 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Skin rash, Increased c... |
OMIM:260920 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Decreased circulating antibody level |
ORPHA:1116 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Abnormal esophagus morphology, Hepatitis, Infectious encepha... |
ORPHA:1163 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... |
OMIM:619705 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Decreased circu... |
ORPHA:90362 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Cachexia, Diarrhea, Furrowed tongue, Int... |
ORPHA:2930 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... |
OMIM:614602 |
Cystic Fibrosis |
|
Malabsorption, Decreased circulating antibody level, Exocrine pancreatic insufficiency |
ORPHA:586 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, Pneumonia, Weight loss, Colitis, Osteomyelitis, Decreased circulat... |
OMIM:619381 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Diffuse cerebral atrophy, Babinski sign, Tremor |
OMIM:300660 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... |
ORPHA:298 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... |
OMIM:619924 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrh... |
OMIM:616740 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus |
OMIM:200900 |
Thymoma |
|
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo... |
ORPHA:99867 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
X-Linked Lymphoproliferative Disease |
|
Decreased liver function, Decreased circulating IgA level, Colitis, Decreased circulating IgG lev... |
ORPHA:2442 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E... |
OMIM:615607 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... |
ORPHA:911 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... |
ORPHA:48435 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Adult-Onset Nemaline Myopathy |
|
High palate, Neuromuscular dysphagia, Feeding difficulties, Paraproteinemia |
ORPHA:171442 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... |
ORPHA:1876 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... |
OMIM:610245 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Cerebellar atrophy |
OMIM:615945 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive |
OMIM:615285 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Panhypogammaglobul... |
OMIM:600802 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho... |
OMIM:606528 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio... |
OMIM:614576 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM |
OMIM:615139 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli... |
ORPHA:3261 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody ... |
OMIM:601495 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Chronic otit... |
ORPHA:47 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Decreased circulating ... |
OMIM:226300 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... |
OMIM:616576 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... |
ORPHA:79078 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... |
OMIM:175500 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Increased circulating IgA level, Decreased serum complement factor B, Neph... |
ORPHA:2298 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Dystonia 23 |
|
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C... |
OMIM:614860 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... |
OMIM:603041 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Abdominal pain, Sk... |
OMIM:301074 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Lead Poisoning |
|
Abdominal cramps, Constipation, Abdominal distention, Abdominal pain, Skin rash, Anorexia, Small ... |
ORPHA:330015 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:275350 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Cleft palate, Skin rash, Eczema, Chronic otitis media, Increased circulating IgE l... |
ORPHA:2314 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy, Diarrhea |
OMIM:618168 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Glossitis, Decreased c... |
ORPHA:90045 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss |
OMIM:612075 |
Caffey Disease |
|
Feeding difficulties in infancy, Increased circulating antibody level |
ORPHA:1310 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,... |
OMIM:301220 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... |
OMIM:620045 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremor, Cerebellar atrophy, Abnormali... |
OMIM:615362 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss |
ORPHA:930 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... |
ORPHA:90280 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, Decreased circulating IgA level, Intussusception, Decreased c... |
ORPHA:90363 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Agammaglobulinemia, X-Linked |
|
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... |
OMIM:300755 |
Ebola Hemorrhagic Fever |
|
Melena, Increased circulating antibody level, Abdominal pain, Maculopapular exanthema, Diarrhea, ... |
ORPHA:319218 |
Wolman Disease |
|
Abdominal distention, Hepatic failure, Steatorrhea, Cachexia, Esophageal varix, Malnutrition, Nau... |
ORPHA:75233 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... |
ORPHA:388 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy |
OMIM:613217 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic |
OMIM:615863 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Decreased circulatin... |
OMIM:620040 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Immunodeficiency 96 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Igg4-Related Kidney Disease |
|
Pancreatitis, Complement deficiency, Decreased serum complement C4, Lymphadenitis, Chronic sinusi... |
ORPHA:449395 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Otitis media, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Pneum... |
OMIM:608971 |
Rift Valley Fever |
|
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hepatitis, Uveitis, In... |
ORPHA:319251 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:572 |
Isolated Congenital Hypoglossia/Aglossia |
|
Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i... |
ORPHA:141152 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Intestinal polyp, Large for gestational age, Cryptorchidism, Pro... |
ORPHA:457485 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Recurrent otitis media |
OMIM:615617 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea |
ORPHA:3217 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... |
ORPHA:98762 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... |
ORPHA:331206 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Ileus, Abdominal distention, Ovarian neoplasm, Abdominal pain, Cachexia... |
ORPHA:83469 |
Brucellosis |
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Vomiting, Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Pericarditis, Weight loss, A... |
ORPHA:1304 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Immune Deficiency Disease |
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Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Exocrine pancreatic insufficiency, Eczema, Interstitial pneumonitis, Decreased circulating antibo... |
OMIM:615952 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... |
ORPHA:521406 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... |
ORPHA:70593 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... |
OMIM:618935 |
X-Linked Immunoneurologic Disorder |
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Decreased circulating IgG2 level |
ORPHA:2571 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level |
ORPHA:206594 |
Bile Acid Malabsorption, Primary, 1 |
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Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid |
OMIM:613291 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Halothane Hepatitis |
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Eosinophilia |
OMIM:234350 |
Igg4-Related Ophthalmic Disease |
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Keratitis, Sinusitis, Sialadenitis, Orchitis, Pancreatitis, Prostatitis, Increased circulating Ig... |
ORPHA:449563 |
Spinocerebellar Ataxia 12 |
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Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni... |
OMIM:604326 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormality of extrapyramidal motor function... |
OMIM:300894 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Bronchiectasis, Osteomyelitis, Impaired Ig class switch recombination, Recurrent infection of the... |
OMIM:608184 |
Spinocerebellar Ataxia 48 |
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Dysphagia, Cachexia |
OMIM:618093 |
Parkinsonism With Spasticity, X-Linked |
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Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Maternal Uniparental Disomy Of Chromosome 1 |
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Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Panhypogammaglobulinemia |
ORPHA:251009 |
Celiac Disease, Susceptibility To, 1 |
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Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator... |
OMIM:212750 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi... |
ORPHA:64744 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Decreased circulating antibody level, Cleft palate |
ORPHA:85317 |
Spastic Paraparesis And Deafness |
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Tremor, Spastic paraparesis |
OMIM:312910 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Immunodeficiency 52 |
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Bronchiectasis, Failure to thrive, Decreased circulating antibody level, Recurrent pneumonia |
OMIM:617514 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreati... |
ORPHA:171 |
Autoinflammatory Disease, Systemic, X-Linked |
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Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Laryngotracheoesophageal Cleft Type 4 |
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Tracheoesophageal fistula, Intestinal atresia, Cachexia |
ORPHA:93941 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Dystonia, Dopa-Responsive |
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Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Christianson Syndrome |
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Dysphagia, Cachexia, Gastroesophageal reflux, Feeding difficulties in infancy |
ORPHA:85278 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Spinocerebellar Ataxia Type 37 |
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Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Lymphoproliferative Syndrome 3 |
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Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Cerebellar atrophy |
OMIM:615768 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
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High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting |
OMIM:616809 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... |
ORPHA:90038 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:251190 |
Cap Polyposis |
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Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Tempi Syndrome |
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Increased circulating IgG level |
ORPHA:284227 |
Lichtenstein-Knorr Syndrome |
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Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Trichinellosis |
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Skin rash, Nausea, Dysphagia, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Immunodeficiency 59 And Hypoglycemia |
|
High palate, Malabsorption, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa,... |
OMIM:233600 |
Spinocerebellar Ataxia 18 |
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Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia |
OMIM:607458 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Decreased circulating antibody level |
OMIM:618165 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... |
ORPHA:67 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Majeed Syndrome |
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Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, C... |
ORPHA:77297 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... |
OMIM:615237 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Decreased specific pneumococcal antibody level, Complete or near-complete abs... |
OMIM:613496 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Cachexia, Decreased testicular size |
ORPHA:3242 |
Leishmaniasis |
|
Anorexia, Increased circulating antibody level, Weight loss, Rhinitis |
ORPHA:507 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Kinetic tremor, Tremor |
OMIM:611808 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni... |
OMIM:614379 |
Waldenström Macroglobulinemia |
|
Malabsorption, Anorexia, Cryoglobulinemia, Diarrhea, Gastrointestinal hemorrhage, Monoclonal immu... |
ORPHA:33226 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Spasticity |
OMIM:618092 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Failure to thrive, Malabsorption, Diarrhea |
OMIM:229050 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Pfapa Syndrome |
|
Malabsorption, Abdominal pain, Arthritis, Weight loss, Infectious encephalitis, Nausea and vomiting |
ORPHA:42642 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin... |
OMIM:181000 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Tick-Borne Encephalitis |
|
Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve... |
ORPHA:297 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Whipple Disease |
|
Malabsorption, Abdominal pain, Anorexia, Cachexia, Diarrhea, Myositis, Myocarditis, Arthritis, Uv... |
ORPHA:3452 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Small for gestational age |
OMIM:215250 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ... |
ORPHA:363654 |
Shigellosis |
|
Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi... |
ORPHA:810 |
Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia |
ORPHA:97229 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Clumsiness |
OMIM:253600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Constipation, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Tremor, Spastic paraplegia, Clon... |
OMIM:600363 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Tetrasomy 12P |
|
Cachexia, Anal atresia, Abnormal soft palate morphology |
ORPHA:884 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephritis, Macroglossia, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypoce... |
OMIM:617303 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... |
ORPHA:2070 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... |
ORPHA:449427 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon |
ORPHA:1438 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ve... |
ORPHA:306669 |
Immunodeficiency 31C |
|
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology |
OMIM:614162 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level |
OMIM:616910 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosi... |
OMIM:612126 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Selective Igm Deficiency |
|
Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... |
ORPHA:331235 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... |
ORPHA:79263 |
Lambert Syndrome |
|
Decreased circulating antibody level, Failure to thrive in infancy |
ORPHA:1296 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Decreased liver function, Malabsorption, Abnormal mast cell morphology, Abdomin... |
ORPHA:98850 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... |
OMIM:617435 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Malabsorption, Eczematoid dermatitis, ... |
ORPHA:83471 |
Immunodeficiency 43 |
|
Bronchiectasis, Decreased circulating IgG level |
OMIM:241600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Decreased lymphocyte apoptosis |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... |
OMIM:615559 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Cryptorchidism, Large for gestational age, Feeding difficulties |
OMIM:616638 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Cerebellar atrophy |
OMIM:210000 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Diarrhea, Decreased circulating antibody level, Bronchiecta... |
ORPHA:169105 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Gastric ulcer |
OMIM:604928 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
High palate, Cachexia, Gastroesophageal reflux |
OMIM:618186 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level |
ORPHA:169079 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Esophageal neoplasm, Neoplasm of the colon, Decreased circulating IgA ... |
ORPHA:125 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Decreased circulating antibody level |
OMIM:301045 |
Prolidase Deficiency |
|
High palate, Increased circulating antibody level, Failure to thrive, Eczema, Crusting erythemato... |
OMIM:170100 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Decreased liver function, Decreased body weigh... |
ORPHA:90051 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Decreased circulating IgA level, Failure to thrive, Constipation, Feeding difficulties, Py... |
OMIM:613327 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Gastroesophageal reflux, Feeding difficulties in infancy, Hepati... |
OMIM:613385 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Icf Syndrome |
|
Malabsorption, Decreased circulating antibody level, Protruding tongue, Macroglossia |
ORPHA:2268 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... |
ORPHA:723 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... |
ORPHA:329918 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Thymic Tumor |
|
Dysphagia, Pericarditis, Dysgammaglobulinemia |
ORPHA:100100 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis |
OMIM:617780 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:616719 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Abdominal pain, Decreased serum complement C4, Diarrhea, Vomiting, Decreased ci... |
OMIM:106100 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Tremor, S... |
ORPHA:33445 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis |
OMIM:619693 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria, Cerebellar atrophy |
OMIM:617917 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumo... |
ORPHA:229717 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Pneumonia, Cutaneo... |
ORPHA:3392 |
Diencephalic Syndrome |
|