Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration |
OMIM:619836 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... |
OMIM:615767 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R... |
OMIM:300635 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614892 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Recurrent vira... |
OMIM:209920 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... |
OMIM:613960 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia |
OMIM:616022 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Impaired vibration sensation in the lower limbs, Acute myelomonocytic leuke... |
OMIM:159550 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Anemia |
OMIM:606996 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Glutathione Synthetase Deficiency |
|
Intention tremor, Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Familial Cold Urticaria |
|
Dysesthesia, Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia, Pancreatitis, A... |
ORPHA:79312 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis |
OMIM:619468 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease |
OMIM:615561 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... |
ORPHA:436159 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... |
ORPHA:911 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia |
OMIM:610738 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis... |
OMIM:618394 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia |
OMIM:193670 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Recurrent viral infections, Atopic dermatitis, Membranous nephro... |
OMIM:618999 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Chorea, Choreoathetosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Recurrent mycobacterial infections, Chronic diarrhea, Ch... |
ORPHA:98813 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Progressive neurologic deterioration, Bronchiectasis, Dysphagia, Aspiration pneumonia, Neutropeni... |
OMIM:618253 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Recurrent skin infections, Partial absence of specific antibody ... |
OMIM:301082 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... |
OMIM:619752 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Tremor, Splenomegaly, Keratitis, Neutropenia in presence of anti-neu... |
ORPHA:525731 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosu... |
OMIM:614700 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Colitis, Recurrent sinusitis |
OMIM:613101 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, H... |
ORPHA:98850 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Huntington Disease |
|
Bradyphrenia, Dystonia, Aggressive behavior, Oral-pharyngeal dysphagia, Chorea, Mental deteriorat... |
ORPHA:399 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... |
ORPHA:486 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, R... |
OMIM:266265 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R... |
OMIM:618935 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Leukopenia, Addictive alcohol use, Neutro... |
ORPHA:520 |
Nephronophthisis 4 |
|
Polydipsia, Anemia |
OMIM:606966 |
Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Anorexia, Splenomegaly, Myocarditis, Uveitis, Arthritis, Polydips... |
ORPHA:3452 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
East Syndrome |
|
Polydipsia, Salt craving, Ataxia, Action tremor |
ORPHA:199343 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Recurrent to... |
ORPHA:2686 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... |
OMIM:617475 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago... |
OMIM:301078 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... |
OMIM:308230 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... |
OMIM:615387 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Aggressive behavior, Gait ataxia, Dementia, Addictive alcohol use, Cognitive i... |
ORPHA:221074 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Cognitive impairment |
OMIM:615994 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Nephronophthisis 1 |
|
Polydipsia, Anemia |
OMIM:256100 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasifo... |
ORPHA:37042 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Recurrent infections, Inflammation... |
OMIM:617718 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Dementia, Cognitive impairment, Neutropeni... |
ORPHA:101096 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Anemia, Arth... |
ORPHA:47612 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, ... |
OMIM:615816 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Neutropenia, Anemia, Dystonia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Sepsis, Uv... |
ORPHA:810 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Decreased circu... |
OMIM:275350 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Anemia, Neutropenia |
OMIM:617056 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Nephronophthisis 11 |
|
Polydipsia, Anemia |
OMIM:613550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Recurrent upper respiratory tract ... |
OMIM:616100 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly... |
ORPHA:398124 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia, Intention tremor |
OMIM:612780 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Ataxia, Tremor, T... |
OMIM:214500 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia |
ORPHA:369929 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Ataxia, Neutropenia |
OMIM:620012 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Anemia |
OMIM:266900 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ... |
OMIM:601495 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Anemia, Leukopen... |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix, Recurrent infections |
OMIM:614576 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... |
ORPHA:29207 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Anemia, Conjunctivitis, Neutropenia, Polydipsia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis, Leukopenia, Neutrop... |
OMIM:616271 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Recurrent ... |
ORPHA:3243 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Confusion, Leukocytosis, Acute infectious pneumonia, Leukopenia, Addicti... |
ORPHA:36238 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Rheumatoid arthritis |
ORPHA:399180 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Brain-Lung-Thyroid Syndrome |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Recurrent pneumoni... |
ORPHA:209905 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Bronchiectasis |
OMIM:301220 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Polydipsia, Anemia |
OMIM:239200 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
Wolfram Syndrome |
|
Polydipsia, Dementia, Ataxia, Anemia |
ORPHA:3463 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol... |
ORPHA:84081 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... |
ORPHA:51636 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Neutropenia, Dysphagia, Choreoathetosis, Dystonia |
OMIM:615471 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Recurrent abscess formation, Intractable diarrhea, ... |
OMIM:619381 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... |
ORPHA:158048 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Impaired T cell function, Pure red cell aplasia, ... |
OMIM:613179 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Ataxia, Polydipsia, Anemia |
ORPHA:35687 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
Panhypophysitis |
|
Polydipsia, Hashimoto thyroiditis, Normochromic anemia |
ORPHA:95513 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, P... |
OMIM:617052 |
Leigh Syndrome |
|
Dystonia, Ataxia, Eczema, Progressive neurologic deterioration, Chorea, Dysphagia, Choreoathetosi... |
ORPHA:506 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Ataxia, Paresthesia |
OMIM:263800 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Glycogen Storage Disease Ib |
|
Gout, Recurrent bacterial infections, Inflammation of the large intestine, Protuberant abdomen, H... |
OMIM:232220 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne... |
OMIM:604173 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Opisthotonus, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... |
OMIM:608233 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proporti... |
ORPHA:1830 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Villous atrophy, Inflammatory abnormality of the skin, Eczema, ... |
ORPHA:391487 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Wiskott-Aldrich Syndrome |
|
Eczema, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:301000 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... |
ORPHA:14 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, P... |
OMIM:557000 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Megaloblastic anemia, Tremor, Dementia, Neutropenia, Delirium, Thrombocytopenia |
OMIM:277400 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutrop... |
ORPHA:508542 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:277380 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia |
OMIM:617827 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Leukocytosis, Addictive alcohol use, Cognitive impairment, ... |
ORPHA:90065 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Eczema, Microcytic anemia, Keratitis... |
ORPHA:906 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... |
OMIM:277900 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, D... |
OMIM:242840 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Eczema, Aggressive behavior, Bruxism, Neutropenia |
OMIM:617799 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Cognitive impairment |
ORPHA:411629 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P... |
OMIM:618213 |
Methanol Poisoning |
|
Addictive alcohol use, Confusion |
ORPHA:31825 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ... |
OMIM:612562 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis |
OMIM:222470 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Fun... |
ORPHA:90051 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Skin rash, Anorexia, Pustule, Thrombocytopenia, Splenomegaly, Myocarditis, Leukopenia, Ly... |
ORPHA:50918 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, Recurrent bacterial in... |
ORPHA:79259 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media, Rheumatoid art... |
OMIM:607944 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... |
ORPHA:2298 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Megaloblastic anemia, Mental deterioration, Dementia, Neutropenia, Stomatitis, Memory imp... |
ORPHA:79282 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Acute Lung Injury |
|
Acute pancreatitis, Addictive alcohol use, Pneumonia |
ORPHA:178320 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Neutropenia, Stomatitis, Megaloblastic anemia |
ORPHA:79284 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflammatio... |
OMIM:232240 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Dystonia, Neutropenia |
OMIM:617050 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
Arima Syndrome |
|
Polydipsia, Ataxia, Anemia |
OMIM:243910 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia |
ORPHA:1302 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Cognitive impa... |
ORPHA:731 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Attention deficit hyperactivity disorder, Neut... |
OMIM:227646 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Arthritis, Polydipsia |
ORPHA:93111 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Pancreatitis, Dysphagia |
ORPHA:99880 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Compulsive behaviors, Poly... |
ORPHA:293987 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Recurrent infections, Colitis, Intra... |
ORPHA:84064 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Parathyroid Carcinoma |
|
Polydipsia, Pancreatitis, Dysphagia |
ORPHA:143 |
Gitelman Syndrome |
|
Salt craving, Gout, Iron deficiency anemia, Tubulointerstitial nephritis, Paresthesia, Polydipsia... |
ORPHA:358 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Recurrent viral infections, Secre... |
OMIM:619573 |
Isolated Osteopoikilosis |
|
Discoid lupus rash, Addictive alcohol use |
ORPHA:166119 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Neutropenia, Anemia, Dysphagia |
OMIM:618460 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Polydipsia |
ORPHA:18 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Neutropenia, Dysphagia |
OMIM:617248 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia, Compulsive behaviors, Aggressive behavior |
ORPHA:163956 |
Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Splenomegaly, Dysphagia, Polydipsia |
OMIM:219800 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Attention deficit hyperactivity disorder, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Neutropenia |
ORPHA:79430 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Neutrophilia, Confusion, Leukocytosis, Hepatosplenomegaly, Chronic hepatiti... |
ORPHA:3260 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Abnormal large... |
ORPHA:171 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Hepatitis, Arthritis |
ORPHA:829 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Dysphagia, Neutropenia, Hy... |
ORPHA:699 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Feeding difficulties, Esophagitis, Recurrent infections |
ORPHA:541423 |
Cartilage-Hair Hypoplasia |
|
Cognitive impairment, Decreased circulating antibody level, Anemia, Neutropenia |
ORPHA:175 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
Rothmund-Thomson Syndrome |
|
Skin rash, Aplastic anemia, Neutropenia, Leukemia, Malar rash, Anemia |
ORPHA:2909 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Japanese Encephalitis |
|
Neutrophilia, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Increased cir... |
ORPHA:79139 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties... |
ORPHA:1199 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Abnormal erythrocyte enzyme level, Chronic ... |
ORPHA:101330 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Paresthesia |
OMIM:241200 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis |
OMIM:612852 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, H... |
ORPHA:228426 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Ethylene Glycol Poisoning |
|
Confusion, Addictive alcohol use, Gastritis, Ataxia |
ORPHA:31826 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99413 |
Turner Syndrome |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:881 |
Mosaic Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99228 |
Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99226 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... |
OMIM:181000 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Anorexia, Confusion, Erythema nodosum,... |
ORPHA:99827 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's... |
OMIM:249100 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia |
OMIM:617107 |
Zollinger-Ellison Syndrome |
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Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Sponastrime Dysplasia |
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Decreased circulating antibody level, Recurrent pneumonia, Neutropenia |
ORPHA:93357 |
Aspartylglucosaminuria |
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Vacuolated lymphocytes, Acne, Neutropenia |
OMIM:208400 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Pmm2-Cdg |
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Reduced thyroxin-binding globulin, Hypoalbuminemia |
ORPHA:79318 |