Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... |
ORPHA:2398 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Diarrhea, Athetosis, Leukopenia, N... |
OMIM:229050 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane... |
OMIM:615285 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Hepatic ste... |
OMIM:615703 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Pro... |
OMIM:619063 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Failure to thrive, Neutropenia |
OMIM:616022 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Conjunctivitis, Hemophagocytos... |
OMIM:603552 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Gait disturbance, Difficulty walking... |
ORPHA:352470 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... |
OMIM:613877 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Cellulitis, Diarrh... |
ORPHA:33110 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Recurre... |
OMIM:613502 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Choreoathetosis, Neutropenia, Lethargy, Failure to ... |
ORPHA:79312 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia |
OMIM:162700 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Neutropenia, Bronchiectasis, Decreased activity of mitoc... |
OMIM:618253 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... |
OMIM:613501 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Conjunctivitis, Neutro... |
OMIM:616740 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Thrombocytopenia, Constipation, Vomiting, Neutr... |
OMIM:606054 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukopenia, Tubulointerstitial nephritis, Vomiting, Neutropenia, Leth... |
OMIM:251000 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... |
ORPHA:79083 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, P... |
ORPHA:436159 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... |
ORPHA:435660 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis, Anemia |
ORPHA:289916 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Vomiting, Neutropenia, Lethargy, Hypopl... |
OMIM:557000 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope... |
OMIM:301078 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Increased i... |
ORPHA:79085 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Spastic gait, Dysphagia |
ORPHA:99013 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... |
OMIM:615387 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... |
ORPHA:37042 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Cell... |
ORPHA:486 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Ataxia, Cachexia, Malabsorptio... |
ORPHA:3452 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Recurrent sinusitis, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Necrotizing Enterocolitis |
|
Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Bloody diarrhea, Vomiting, Abnorm... |
ORPHA:391673 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperins... |
ORPHA:528 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Normochromic anemia, Gastroesophageal ... |
OMIM:614857 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut... |
ORPHA:443811 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, B lympho... |
OMIM:619705 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Pyloric stenosis, Splenomegaly, Ileus... |
OMIM:613327 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in ... |
OMIM:615952 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Recurrent otitis medi... |
OMIM:617475 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... |
ORPHA:2688 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Megaloblastic anemia, Thrombocy... |
OMIM:277380 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion... |
OMIM:214150 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di... |
ORPHA:1667 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Cellulitis, ... |
ORPHA:47612 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Macrocytic anemia, Dysmetria, Decreased activity of mitochondrial... |
OMIM:615578 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy... |
OMIM:275350 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... |
ORPHA:540 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Failure to thrive, Ataxia, Small for gestational age, Decreased ac... |
OMIM:615471 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac... |
ORPHA:398124 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Gait distur... |
OMIM:302060 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Cryptorchidism, Recurrent pneumonia, Constipation, Gastroesophageal reflux, Neutropenia |
OMIM:620012 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... |
OMIM:301082 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Bloom Syndrome |
|
Adipose tissue loss, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased pr... |
ORPHA:125 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... |
OMIM:607594 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, ... |
OMIM:616395 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Leigh Syndrome |
|
Failure to thrive, Multiple joint contractures, Ataxia, Hypoglycemia, Decreased activity of mitoc... |
ORPHA:506 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Microcytic anemia, Decreased activity of mitochondrial complex II, M... |
OMIM:251900 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Cleft palate, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Anemia |
OMIM:616738 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Hepatic fibros... |
OMIM:613989 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Whim Syndrome 1 |
|
Bronchiectasis, Neutropenia |
OMIM:193670 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Cryptorchidism, Insulin resistance,... |
OMIM:616541 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Small f... |
OMIM:260400 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Atopic dermatitis, Chronic mucocu... |
OMIM:619752 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Diarrhea, Gastrointestinal dysmotility, Ja... |
ORPHA:90051 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Vomiting, Neutropenia, Lethargy, Failure to thrive,... |
OMIM:251110 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Vom... |
ORPHA:2169 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Broad-based gait, Anemia, Neutropenia |
OMIM:618067 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Ataxia, Abscess, Eosinop... |
OMIM:615816 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hepatitis, Chro... |
OMIM:308230 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata... |
OMIM:214500 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Inability to walk, Thrombocytopenia, Flexio... |
OMIM:617303 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neu... |
OMIM:232220 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Cleft palate, Reduced number of intrahepatic bile ducts, Neutrop... |
ORPHA:79284 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope... |
ORPHA:1163 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity |
OMIM:617885 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Ataxia, High, narrow palate, Insulin resistance, Biliar... |
OMIM:209900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Neutropenia, High palate, Steatorrh... |
OMIM:617941 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Patent d... |
ORPHA:17 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki... |
ORPHA:90301 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Insulin resistance, Obesity, Recurrent hy... |
ORPHA:813 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... |
ORPHA:292 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Type II diabetes mellitus, Gastrointestinal carci... |
ORPHA:902 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Unsteady gait, Macroglossia, Gait disturbance, Dysphagia |
ORPHA:412217 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Thrombocytopenia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Leukopenia, ... |
OMIM:616271 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Cellulitis, Lymp... |
ORPHA:51636 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... |
OMIM:601495 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... |
OMIM:250250 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... |
OMIM:301081 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Vomiting, Neutropenia, Lethargy, Failure to thrive,... |
OMIM:251100 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Choreoathetosis, Infection associated neutropenia, Neutropenia, He... |
ORPHA:445038 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive |
ORPHA:73272 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... |
OMIM:608233 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... |
OMIM:246400 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Thrombocytopenia, High palate, Neutropenia, Umbilical hernia, Failure ... |
OMIM:614520 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Ataxia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Minimal change glomerulonephritis, Thrombocytopenia, Decr... |
ORPHA:1830 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Decreased mitochondrial number, Nausea, Dysphagia |
ORPHA:352447 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... |
OMIM:617052 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Ataxia, ... |
ORPHA:699 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia... |
ORPHA:158048 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Chronic neutropenia, Diarrhea, Hepatocellular aden... |
ORPHA:79259 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue |
ORPHA:199276 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... |
ORPHA:391487 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Patent ductus arteriosus, High palate, Neutropenia, Joint contracture, Failure to t... |
OMIM:618005 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Cohen Syndrome |
|
Small for gestational age, High, narrow palate, Leukopenia, Neutropenia, Childhood-onset truncal ... |
OMIM:216550 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Malabsorption,... |
ORPHA:537 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, High, narrow palate, Cryptorchidism, Insulin resistance, Constipation,... |
ORPHA:96182 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Eso... |
OMIM:612562 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... |
ORPHA:769 |
Monosomy 13Q34 |
|
Hematochezia, Insulin resistance, Hepatic steatosis, Obesity |
ORPHA:96168 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Anemia, Neutropenia |
OMIM:617056 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bro... |
OMIM:300755 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Stomatitis, A... |
ORPHA:520 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Atax... |
ORPHA:167 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammat... |
OMIM:232240 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Rectal prolapse, Insulin res... |
ORPHA:508 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopeni... |
OMIM:242900 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mitochondrial swelling, Dysphagia |
ORPHA:397744 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... |
ORPHA:435651 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Rhinitis, Vomiting, Anemia |
ORPHA:230 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Failure to thrive, Polycythemia, ... |
OMIM:606812 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Reduction of neutrophil motility, Periodontitis, Cellulitis, Recurrent o... |
OMIM:266265 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne... |
OMIM:604173 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... |
ORPHA:3226 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia... |
ORPHA:98849 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy |
OMIM:602541 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hypoglycemia, Megaloblastic anemia, Jaundice, Neutropenia, Stomatitis, Lethargy, Failure ... |
ORPHA:79282 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling, Vomiting |
OMIM:618250 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Esophageal atresia, Patent ductus arteriosus, Cryptorchi... |
OMIM:227646 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Ataxia, S... |
ORPHA:50918 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Ins... |
ORPHA:91 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Small for gestational age, Eczema, Inability to walk, Gastrointestinal dysmotility, Chron... |
OMIM:617799 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Multiple joint contractures, Eczema, Cryptorchidism, High, n... |
ORPHA:33364 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus |
ORPHA:263297 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape, Ataxia, Gait ataxia |
ORPHA:543470 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutrop... |
ORPHA:508542 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Thro... |
ORPHA:124 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Diarrhea, Insulin resistance, Gout, Glucose intolera... |
ORPHA:358 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Au... |
OMIM:613179 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Diarrhea, Jau... |
ORPHA:525731 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Vici Syndrome |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Cleft palate, Chro... |
OMIM:242840 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Neu... |
OMIM:600901 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Ataxia, Splenomegaly, Ileus, Constipation, Arthrogryposis mu... |
ORPHA:163746 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Patent ductus arteriosus after premature birth, Dysphagia, Corneal scarring, N... |
OMIM:618460 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Decreased body weight |
OMIM:609053 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Flexion contracture, R... |
OMIM:227645 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Neutropenia |
OMIM:617050 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Neu... |
OMIM:227650 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Neutropenia, Fai... |
ORPHA:175 |
Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, High, narrow palate, Cryptorchidi... |
ORPHA:193 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Intestinal pseudo-obstruction, Oral-pharyngeal ... |
ORPHA:273 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Aplastic anemia, Abnormal dental enamel morphology, Cryptorchidism, Di... |
ORPHA:221016 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Intestinal malrotation... |
OMIM:600001 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... |
OMIM:155310 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Aplastic anemia, Abnormal dental enamel morphology, Cryptorchidism, Di... |
ORPHA:221008 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice, Neutropenia, Dysphagia, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Malabsorption, Weight loss, Neutr... |
ORPHA:79430 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Omphalocele, Intestinal malrotation, Hypoperistalsis, ... |
ORPHA:2241 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia |
OMIM:617827 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media, Rheumatoid art... |
OMIM:607944 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia,... |
ORPHA:36238 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, High palate |
ORPHA:90153 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Splenomegaly,... |
ORPHA:829 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Skin rash, Diarrhea, Chronic diarrhea,... |
OMIM:617099 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Leukocyt... |
OMIM:249100 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:277400 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Rothmund-Thomson Syndrome |
|
Small for gestational age, Aplastic anemia, Abnormal dental enamel morphology, Skin rash, Diarrhe... |
ORPHA:2909 |
Fg Syndrome Type 1 |
|
Broad-based gait, Inguinal hernia, Progressive flexion contractures, Abnormal large intestine mor... |
ORPHA:93932 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Ataxia, Small for gestational age, Scarring, Protruding tongue, Micro... |
ORPHA:99843 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... |
OMIM:614204 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pust... |
OMIM:612852 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D... |
ORPHA:404454 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... |
ORPHA:95455 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate, Persistence of... |
OMIM:105650 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Diarrhea, Jaundice, Leukocytosis, ... |
ORPHA:91547 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosi... |
ORPHA:90038 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic diarrhea, Hepatosplenomegaly,... |
ORPHA:3260 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Cryptorchidism, Patent ductus arteriosus, Chronic constipa... |
ORPHA:163956 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
Aspartylglucosaminuria |
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Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Hernia, Neutropenia, Macroorc... |
OMIM:208400 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Hypoglycemia, Abnormal large intestine morphology, Cachexia, Narrow palate,... |
ORPHA:109 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Macroglos... |
ORPHA:500095 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Splenomegaly, Diarrhea, Chronic diarrhea, Leukocytosis, Lymphadenitis, H... |
OMIM:260920 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Absence of subcutaneous fat, Osteoarthritis, Weight loss, High palate, Shuffl... |
ORPHA:740 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Patent ductus arteriosus, Peritonitis, Pyelonephritis, Microcolon |
OMIM:619351 |
Meconium Ileus |
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Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Alström Syndrome |
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Hypoplasia of the Leydig cells, Gastroesophageal reflux, Hepatic fibrosis, Otitis media, Hepatic ... |
ORPHA:64 |
Pneumocystosis |
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Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr... |
ORPHA:723 |
Thauvin-Robinet-Faivre Syndrome |
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Macroglossia, Inguinal hernia, Transient neutropenia, Large for gestational age |
OMIM:617107 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Ataxia, Lipodystrophy, ... |
ORPHA:79318 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Crimean-Congo Hemorrhagic Fever |
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Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocy... |
ORPHA:99827 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Small for gestational age, Neutropenia |
ORPHA:93357 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc... |
ORPHA:99829 |
Restrictive Dermopathy |
|
Multiple joint contractures, Camptodactyly of finger, Patent ductus arteriosus, Submucous cleft h... |
ORPHA:1662 |