Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CCAAT/enhancer binding protein (C/EBP), beta
Synonyms:
NF-M,  IL-6DBP,  LAP,  CRP2,  C/EBPbeta,  LIP,  NF-IL6,  C/EBP BETA,  Nfil6

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cebpb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... OMIM:300310
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... OMIM:613502
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Myositis, Facial palsy, Muscular dystrophy, Flexion contracture, Scapular wi... OMIM:253600
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myositis
Myositis OMIM:160750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... ORPHA:100024
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Osteolysis ORPHA:158014
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis ORPHA:565899
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... OMIM:618534
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Osteoporosis, Ost... ORPHA:397685
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Osteolysis OMIM:221810
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia OMIM:262400
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... OMIM:615285
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Premature Ovarian Failure 2B
Osteoporosis, Primary amenorrhea, Premature ovarian insufficiency OMIM:300604
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Lymphadenopathy, Coombs-positive hemolytic... OMIM:304790
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Focal Myositis
Myositis ORPHA:48918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Decreased circulating IgG... OMIM:102700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:73
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Impaired T cell ... OMIM:240500
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Impai... OMIM:607594
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections OMIM:618847
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease ORPHA:69126
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, BCGosis, Hemolytic-uremic syndrom... OMIM:619644
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrot... OMIM:617575
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... OMIM:193670
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut... OMIM:603909
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... OMIM:601859
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism OMIM:262700
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Ollier Disease
Joint stiffness, Anemia, Osteolysis ORPHA:296
Ramon Syndrome
Osteolysis ORPHA:3019
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Progressive loss of facial adipose ... OMIM:608709
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Decreased prealbumin level, Neutropenia, Tubulointerstitial nephritis, Neutropeni... ORPHA:37042
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Petechiae, Anemia, Abnormalit... OMIM:612840
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... ORPHA:2774
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Onychomycosis, Chronic tinea inf... OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Loss of subcutaneous adipose tissue in limbs, Maternal d... OMIM:604367
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Tenosynovial Giant Cell Tumor
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis ORPHA:66627
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Eosinophilic Fasciitis
Arthritis, Fasciitis, Muscular edema, Myositis ORPHA:3165
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Pallor, Skin ulcer, J... ORPHA:231222
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, Hepat... OMIM:617872
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Panniculitis, Flexion contracture, Basal ganglia calcification OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Caspase 8 Deficiency
Eczema, Pneumonia, Recurrent herpes, Lymphadenopathy, Decreased circulating IgA level, Decreased ... OMIM:607271
Glucocorticoid Resistance, Generalized
Hirsutism, Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Pituitary adenoma, Recurrent fractur... ORPHA:163634
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diabetes mellitus, Pallor... ORPHA:231226
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Lymphadenopathy, Anemia, Splen... ORPHA:824
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Boutonneuse Fever
Leukopenia, Petechiae, Lymphadenopathy, Increased circulating IgG level, Increased circulating Ig... ORPHA:83313
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lac... ORPHA:572
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecularization, Recurrent... ORPHA:93160
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Osteolysis ORPHA:391
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Immunodeficiency 52
Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hem... OMIM:617514
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract infections, R... OMIM:615707
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack of T cel... ORPHA:277
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hepatic failure, Elevated... OMIM:617156
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diab... ORPHA:231214
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Maternal di... ORPHA:324575
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes m... OMIM:606367
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Immunodeficiency 32A
Lymphadenopathy, Recurrent infections OMIM:614893
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Growth Hormone Insensitivity Syndrome
Fine hair, Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypogonadism, Diabetes me... ORPHA:181393
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
C3 Glomerulopathy
Nephrotic syndrome, Decreased serum complement C4, Hematuria, Lipodystrophy, Elevated circulating... ORPHA:329918
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Pallor ORPHA:75563
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Increased circulating interleukin 8, Adipose tissue loss, Splenomegaly, Parotiti... OMIM:256040
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... ORPHA:98850
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis ORPHA:1657
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus, Elev... OMIM:610717
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Reticular Dysgenesis
Sepsis, Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash... ORPHA:33355
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent... OMIM:269840
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Recurrent opportunistic infections, Pneumonia, Lymphadenopathy, Failure to ... OMIM:608971
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infec... OMIM:614470
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased... ORPHA:79085
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,... OMIM:614700
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Anemia, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis ORPHA:324964
Familial Tumoral Calcinosis
Skin rash, Calcification of muscles ORPHA:53715
Ovarian Dysgenesis 1
Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Infantile Myofibromatosis
Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis OMIM:602080
Periodic Fever, Familial, Autosomal Dominant
Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunctivitis OMIM:142680
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Elevated circul... ORPHA:435660
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... ORPHA:2137
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent opportunistic infections, Neutropenia in presence of anti-neutropil antibodi... OMIM:613179
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular ... ORPHA:1320
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Decreased ci... OMIM:300635
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... OMIM:603552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Ost... ORPHA:371428
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Felty Syndrome
Neutropenia, Synovitis, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Arthritis, A... ORPHA:47612
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Metacarpal osteolysis, Osteolytic defects... OMIM:259610
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Elevated cir... ORPHA:449395
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... OMIM:618261
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hypertriglyceridemia OMIM:614480
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic... ORPHA:229717
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Impaired mem... OMIM:308230
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Hyperbilirub... OMIM:259720
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Lymphadenopathy, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Sk... ORPHA:2584
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... ORPHA:79237
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis, Pathologic fracture ORPHA:52430
Kerion Celsi
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... ORPHA:499
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren... ORPHA:331235
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Petechiae, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibod... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Lipodystrophy, Anemia, Arthriti... OMIM:617591
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, Splenomegaly... OMIM:615688
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... ORPHA:99845
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... ORPHA:47
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hyperflexibility ORPHA:1875
Gaucher Disease Type 1
Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Increased circulating antibody... ORPHA:77259
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Maternal di... ORPHA:276580
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Minimal change glomerulonephri... OMIM:618348
Lymphoproliferative Syndrome 2
Hepatomegaly, Sepsis, Severe varicella zoster infection, Ascites, Lymphadenopathy, Decreased circ... OMIM:615122
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Increased circulating gonadotropin level, Redu... ORPHA:2410
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Failure to thrive, Diabetic ketoacidosis, Hyperglyc... ORPHA:99886
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Cysticercosis
Infectious encephalitis, Abnormal skeletal muscle morphology, Iridocyclitis, Cerebral calcificati... ORPHA:1560
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoglycemia OMIM:246900
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia ORPHA:100025
Graft Versus Host Disease
Inflammatory abnormality of the skin, Skeletal muscle atrophy, Pneumonia, Stomatitis, Myositis, F... ORPHA:39812
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Recurrent infections, Increased circulating antibody level, Skin rash, Thrombocy... OMIM:618048
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Hepatomegaly, Hypoglycemia, Oligomenorrhea,... ORPHA:79239
Aromatase Deficiency
Macroorchidism, postpubertal, Osteoporosis, Ambiguous genitalia, female, Delayed epiphyseal ossif... ORPHA:91
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... OMIM:613011
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadeno... ORPHA:3392
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... ORPHA:37748
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Sepsis, Bronchiectasis, Lymphadenopathy, Decreased... OMIM:616100
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomalacia, Recurrent frac... OMIM:146300
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... OMIM:160500
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure,... OMIM:231100
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Lipodystrophy, Recurren... OMIM:613913
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Hyperbilirubinemia, Pallor, Extramedull... ORPHA:822
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Hypoglycemia, Amenor... ORPHA:95619
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Osteopenia, Gonadotropin deficiency, Micropenis, Prim... OMIM:614837
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
H Syndrome
Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Hepatosplenomegaly, Microcytic anemia, Camptod... ORPHA:168569
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Flexion contracture, Diabetes mellitus, ... OMIM:615381
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Recurrent viral inf... OMIM:618999
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Focal pancr... ORPHA:276575
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenopathy, Elevated circulating creatine kinase concentration, Recurr... OMIM:615895
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Arthritis, Flexion contracture, Dyspareunia ORPHA:220393
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... OMIM:609993
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Insulin-resistant diabetes mellitus, Diabetic... OMIM:262190
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Hematuria OMIM:314000
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Myoglobinuri... ORPHA:264580
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Hemolytic-uremic syndrome, Recurrent staphylococcal infections, Impaired plate... ORPHA:2968
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Re... ORPHA:276556
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... OMIM:616005
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Lymphadenopathy, Increased circulating IgA l... ORPHA:29073
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Coccidioidomycosis
Lymphadenopathy, Atypical scarring of skin, Unusual CNS infection, Eosinophilia, Morbilliform ras... ORPHA:228123
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Cholestasis, Adrenocorticotropic horm... OMIM:201400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:619048
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... ORPHA:169160
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir... ORPHA:911
Congenital Disorder Of Glycosylation, Type Im
Sparse and thin eyebrow, Sparse eyelashes, Hypoketotic hypoglycemia OMIM:610768
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Anemia, ... ORPHA:848
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233710
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thin bony cortex, Rickets, Fibrous dysplasia of ... ORPHA:249
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat... OMIM:602450
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis, Elevated circulating alanin... OMIM:619386
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, ... ORPHA:528
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Irregular menstruation, Increased circulating prolactin concentra... OMIM:144800
Antisynthetase Syndrome
Myocarditis, Skin rash, Keratoconjunctivitis sicca, Myositis ORPHA:81
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Severe varicella zoster infection, Bronchiectasis, Absces... OMIM:615816
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, Glycosuria... ORPHA:2088
Prolidase Deficiency
Hepatomegaly, Eczema, Petechiae, Anemia, Recurrent infections, Splenomegaly, Crusting erythematou... OMIM:170100
Hypercholanemia, Familial 1
Rickets OMIM:607748
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Roifman Syndrome
Eczema, Hip contracture, Lymphadenopathy, Hypogonadotropic hypogonadism, Decreased circulating an... ORPHA:353298
Immunodeficiency 55
Eczema, Neutropenia, Lymphadenopathy, Recurrent infections, Recurrent skin infections, Dry skin OMIM:617827
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Shashi-Pena Syndrome
Highly arched eyebrow, Hypoglycemia OMIM:617190
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Primary amenorrhea, Cryptorchidism, Decr... OMIM:610628
Kaposiform Lymphangiomatosis
Pancreatic cysts, Fractures of the long bones, Anemia, Metrorrhagia, Splenomegaly, Abnormal splee... ORPHA:464329
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Arthritis, Increased variability in muscle fiber diameter... ORPHA:397744
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Type 1 fibers relatively smaller than type 2 fibers, C... ORPHA:596
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis, Pallor ORPHA:99931
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233690
Granulomatous Slack Skin
Hypercalcemia, Cutis laxa, Nephrocalcinosis, Erythema, Abnormality of the lymph nodes, Acute kidn... ORPHA:33111
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Hypoglycemia OMIM:618958
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Hepatic failure, Jaundice ORPHA:75234
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Abnormality of co... ORPHA:2348
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Pyoderma... OMIM:150550
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Petechia... ORPHA:91138
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Carnitine Deficiency, Systemic Primary