Gene Summary

Name:
fibrinogen-like protein 1
Synonyms:
N/A

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 2.64×10-05
abnormal bone mineralization Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 4.41×10-09
increased lean body mass Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 4.69×10-05
abnormal bone structure Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 1.95×10-07
increased circulating glucose level Fgl1tm1a(EUCOMM)Hmgu HOM   Early adult 2.30×10-05
increased bone mineral content Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 9.20×10-07
increased circulating HDL cholesterol level Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 6.81×10-07
increased total body fat amount Fgl1tm1a(EUCOMM)Hmgu HOM Early adult 1.79×10-05

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Viewing: all phenotypes

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 Fgl1 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 Fgl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Glucose intolerance, Diabetes mellitus, Hyper... OMIM:610947
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity,... ORPHA:90283
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, Insulin-resista... ORPHA:280356
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Small for gestational age, Failure to thrive, Transient neonatal diabetes ... ORPHA:99886
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Lymphoma, Acute myeloid leukemia, Systemic ... OMIM:616871
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Paget Disease, Extramammary
Eczematoid dermatitis, Neoplasm OMIM:167300
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Verrucous Hemangioma
Hemangioma, Papilloma, Inflammatory abnormality of the skin ORPHA:464318
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Chronic Actinic Dermatitis
Pruritus, Actinic keratosis, Eczema, Erythroderma, Allergic rhinitis, Late onset atopic dermatitis ORPHA:330064
Immunodeficiency 17
Eczema, Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Mody
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Truncal obesity, Failure to thrive, Diabe... ORPHA:181393
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, B lympho... ORPHA:277
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Pityriasis Rubra Pilaris
Pruritus, Neoplasm, Eczema, Erythroderma, Pustule ORPHA:2897
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia OMIM:300988
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Antimitochondrial antibody positivity, Auto... OMIM:610163
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Squamous cell carcinoma, Acne inversa, Chronic furunculosis, Recurrent cutaneou... OMIM:613736
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Thrombocytopenia, Seborrheic dermatitis, Absent circulating B cells OMIM:619693
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, He... ORPHA:435651
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, B-cell lymphoma, B lymphocytopenia... OMIM:619164
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Insulin resistance, Hyperinsulinemia... ORPHA:528
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Hyperlipidemia, Decreased a... OMIM:608612
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased proportion of memory B cell... OMIM:615897
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Squamous cell carcinoma, Pneumonia, Verrucae, Recurrent sinusitis, Atopic derm... ORPHA:217390
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Erythroderma, B lymphocy... OMIM:603554
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Pneumonia, Autoimmunity, Ly... ORPHA:39041
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71526
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Pemphigus Foliaceus
Autoimmunity, Pruritus, Erythroderma, Neoplasm of the skin, Psoriasiform dermatitis, Pustule, Hem... ORPHA:79481
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Osteoarthritis, Osteoporosis, Hyperuricemia, Diabetes mellitus, Hy... ORPHA:77296
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Acquired Ichthyosis
Autoimmunity, Pruritus, Recurrent skin infections, Sarcoma, Multiple myeloma, Lymphoma, Neoplasm ORPHA:454
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephri... OMIM:152700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Colitis, Antinuclear antibody positivity, Thrombocytopenia, Hemolytic anemia... OMIM:616744
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, B lymphocytopenia, Otitis media,... OMIM:601457
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, B lymphocytopenia, Perian... OMIM:618108
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Recurrent otitis media, Recurrent skin infections, Cutaneous abscess, Atopic dermatitis, Decrease... OMIM:618944
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy,... ORPHA:79083
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating selenium concentration, Obesity, Fasting hypoglycemia, Abnormal circulating ... ORPHA:171706
Wiskott-Aldrich Syndrome 2
Eczema, Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Hepatomegaly, Failure to thrive OMIM:617872
Epidermodysplasia Verruciformis
Recurrent skin infections, Squamous cell carcinoma, Verrucae, Pustule, Seborrheic dermatitis ORPHA:302
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Sézary Syndrome
Abnormal lymphocyte morphology, Pruritus, Lymphoma, Splenomegaly, Erythroderma, Cutaneous T-cell ... ORPHA:3162
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema... OMIM:618282
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276575
Immunodeficiency 31C
Autoimmunity, Autoimmune hemolytic anemia, Eczema, Lymphopenia, Chronic mucocutaneous candidiasis OMIM:614162
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia ORPHA:254531
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Immunodeficiency 81
Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell receptor excis... OMIM:619374
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Cirrhosis, Cholangiocarcinoma,... ORPHA:465508
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Immunodeficiency 75
Lymphoma, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronchiectasis OMIM:619126
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial ... ORPHA:139402
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Rhinitis, Atopic dermatitis, B lymphocytopenia... ORPHA:70593
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Decreased circulatin... ORPHA:276556
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Immunodeficiency 70
Colitis, Decreased proportion of CD4-positive helper T cells, Verrucae, Recurrent sinusitis, B ly... OMIM:618969
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent s... OMIM:607594
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619386
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Portal hypertension, Cholestasis, Inguinal hernia, Hepatitis, Postprandial h... ORPHA:440713
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Anti-thyroglobulin antibody positivity, Autoimmune th... OMIM:618534
Laron Syndrome
Hypoglycemia, Osteoarthritis, Truncal obesity, Hypercholesterolemia ORPHA:633
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Chondrocalcinosis, Path... OMIM:146300
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased proportion of memory T cells, Molluscum con... OMIM:618982
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Hepatic failure, Impaired glucon... OMIM:261680
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Failure to thrive in inf... OMIM:618156
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Periportal fibrosis, Inc... OMIM:278000
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Dorsocervical fat pad, Abnormal subcutaneou... ORPHA:189439
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Hypoglycemia, Decreased plasma total carnitine, Decreas... ORPHA:42
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains OMIM:610448
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegaly, Xanthelasma, ... ORPHA:412
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Hypercholesterolemia, Hyperinsulinemi... ORPHA:79237
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Hyperbilirubinemia, Acho... OMIM:615710
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Immunodeficiency 55
Neutropenia, Eczema, Recurrent skin infections, Myelodysplasia OMIM:617827
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal subcutaneous fat tissue distributi... OMIM:212065
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Pruritus, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly,... OMIM:615559
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, B lymphocytopenia, Abnormal T cell m... OMIM:612692
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Ichthyosis With Confetti
Erythroderma OMIM:609165
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Increased body weight, Increa... OMIM:615830
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma, Squamous cell carcinoma OMIM:602540
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Verrucae, Recu... ORPHA:275
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Dorsocervical fat pad, Paradoxical increased cortisol secretio... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Mycosis Fungoides
Pruritus, Lymphoma, Eczema, Neoplasm of the skin, Psoriasiform dermatitis OMIM:254400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... OMIM:614300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Lymphoma, Colitis, Autoim... ORPHA:911
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Abnormal adipose tissue... ORPHA:93160
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Rheumatoid factor positive, Coombs-positive hemolytic anemia, Autoimmune hemolytic ... OMIM:603909
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Increased body ... ORPHA:890
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Ddost-Cdg
Lipodystrophy, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Auto... ORPHA:229717
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Subcorneal Pustular Dermatosis
Autoimmunity, Pruritus, Multiple myeloma, Systemic lupus erythematosus, Rheumatoid arthritis, Pus... ORPHA:48377
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:370
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Autoimmune antibody positivity, Arter... OMIM:301054
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Corneal scarrin... ORPHA:101330
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Osteomalacia, Hypophosphatemia, Rickets OMIM:134600
Immunodeficiency 58
Recurrent pneumonia, Cutaneous abscess, Colitis, Molluscum contagiosum, Verrucae, Recurrent aphth... OMIM:618131
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Joint hypermobility, Truncal obesity, M... ORPHA:96184
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Hyperlipidemia... ORPHA:444490
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Pruritus, Lymphoma, Splenomegaly, Eczema, Cutaneous T-cell lympho... ORPHA:2584
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Conjunctival hamartoma ORPHA:312
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin ORPHA:90159
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Diffuse Cutaneous Mastocytosis
Pruritus, Myeloproliferative disorder, Erythroderma, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus ORPHA:79394
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B ... OMIM:615513
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Hyperphosphatemia, Elevated hepatic transaminase, Increase... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hypouricemia, Diabetes mellitus, Hypophospha... OMIM:616026
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity, Hyperbilirubinemia, Cholestasis OMIM:609734
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule OMIM:614328
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Lymphoma, Chronic neutropenia, Autoimmune hemolyti... OMIM:614700
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Seborrheic dermatitis, Stomatitis, Thrombocytopenia OMIM:246400
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Pericarditis, Antinuclear antibody positivity, Arthritis OMIM:609939
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis, Pruritus OMIM:608649
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Infectious encephalitis, Maculopapular exanthema, Colitis, Splenomegaly, Neutro... ORPHA:540
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperuricemia, Hyperglycemia, Weight loss, Hyperammonemia ORPHA:134
Fanconi-Bickel Syndrome
Glycosuria, Hypokalemia, Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Failure... OMIM:227810
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Biliary tract abnormality, Ty... ORPHA:3191
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Osteopo... ORPHA:79240
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Rickets OMIM:602722
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Eleva... OMIM:600649
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Lymphoma, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Skin rash ORPHA:90036
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Bronchiectasis, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis OMIM:121270
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Absent circulating B cells, Transient neutropenia OMIM:619707
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Squamous cell carcinoma, Decreased pro... OMIM:243700
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Thrombocytosis, Osteomyelitis, B ly... OMIM:619652
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Failure to thrive, Delayed epiphys... OMIM:600081
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Netherton Syndrome
Erythroderma, Allergic rhinitis, Hypereosinophilia OMIM:256500
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Osteomyelitis, Erythroid hyperplasia, Inflammatory abnorma... OMIM:609628
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased proportion of CD3-positive T cells, Pneumonia, S... ORPHA:276
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Autoimmunity, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lym... ORPHA:331206
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, I... ORPHA:508
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubi... ORPHA:79303
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... OMIM:201475
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Rickets, Osteomalacia ORPHA:89937
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Femoral hernia, Osteomalacia, I... ORPHA:1901
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Failure to thrive, Elev... ORPHA:79324
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Fasting hypoglycemia, Increased C-peptide level, Insulin resi... ORPHA:769
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Lymphoma,... ORPHA:443811
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, T lymphocytopenia, Sclerosing cholangitis, Autoimmunity, Abnormal CD4:CD... ORPHA:572
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Alstrom Syndrome
Hepatic steatosis, Hyperinsulinemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Truncal o... OMIM:203800
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent pneumonia, Pneumonia, Impaired lymphocyte transformation with phytoh... OMIM:300400
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabet... ORPHA:91
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Failure to thrive, Diabetes mellitus, Type I diabetes mellitus, Rickets OMIM:560000
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Uveitis, Rheumatoid factor positive, Autoimmune hemolytic anemia, Decreased proport... ORPHA:3261
Retinitis Pigmentosa
Type II diabetes mellitus, Obesity, Atypical scarring of skin, Hyperinsulinemia ORPHA:791
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Acute pancreatitis, Lymphadenitis, Rheu... OMIM:618935
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... OMIM:231530
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Tall stature, Hypermethioninemia, Inguinal hernia, Failur... OMIM:236200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Recurrent skin infections, Psoriasiform dermatitis OMIM:615508
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Failure ... OMIM:241530
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... OMIM:618620
Fanconi Renotubular Syndrome 3
Glycosuria, Rickets OMIM:615605
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Bronchie... OMIM:616100
Abetalipoproteinemia
Hepatic steatosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hepatomegaly, De... ORPHA:14
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Autoimmunity, Arthritis, Thrombocytopenia, Neoplasm, Neutropenia,... ORPHA:47
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Flexion contracture, Hepatomegaly, Failure to thrive, Diabetes mellitus, Pancr... OMIM:616263
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Leukopenia, Rheumatoid factor positive, Thrombocytosis, Antiphospholipid antibody posit... OMIM:615934
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Lamellar Ichthyosis
Erythroderma, Pruritus, Chronic otitis media ORPHA:313
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Generalized lipodystrophy... ORPHA:79474
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Thin bony ... OMIM:264700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Absent natural killer cells, Acute ot... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... ORPHA:99901
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Erythroderma OMIM:617425
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Autoimmune anti... ORPHA:555905
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Myelodysplasia, Myeloid leuk... ORPHA:48104
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Rickets OMIM:611590
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... OMIM:212138
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Enamel hypoplasia, Hypocalcemia, Increased suscept... ORPHA:289157
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic f... OMIM:615630
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Obesity, Hyperinsulinemia ORPHA:3085
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyper... ORPHA:348
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia OMIM:210200
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Osteopenia, Hypercholesterolemia ORPHA:2479
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Bullous Pemphigoid
Eczema, Autoimmunity, Psoriasiform dermatitis ORPHA:703
Netherton Syndrome
Eczema, Erythroderma, Skin rash ORPHA:634
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Dent Disease 1
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... OMIM:300009
Dermatitis Herpetiformis
Microcytic anemia, Autoimmunity, Eczema, Pruritus ORPHA:1656
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Reactive hypoglycemia, Fasting... ORPHA:97279
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Insuli... ORPHA:37042
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Pericarditis, Anterior uveitis, Skin rash, Juvenile rheumatoid arthritis ORPHA:85414
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Mal De Meleda
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin ORPHA:87503
Infantile Systemic Hyalinosis
Osteopenia, Joint stiffness, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Pruritus, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic he... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Thin bony ... OMIM:277440
Bleeding Disorder, Platelet-Type, 21
Eczema, Thrombocytopenia, Psoriasiform dermatitis OMIM:617443
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Pachydermoperiostosis
Splenomegaly, Acne, Anemia, Neoplasm of the lung, Osteomyelitis, Neoplasm of the skin, Eczematoid... ORPHA:2796
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Recurrent pneumonia, Recurrent skin infections, Cutaneous abscess, Bronchiectasis, Neutropenia, A... OMIM:619752
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonketotic hypoglycemi... OMIM:608836
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Congenital diaphragmatic hernia, Inguinal ... OMIM:600001
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Inter... OMIM:615952
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Sitosterolemia 1
Hyperapobetalipoproteinemia, Arthritis, Elevated circulating sitosterol concentration, Hyperchole... OMIM:210250
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia OMIM:600955
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Enterocolitis, Pancolitis, Folliculitis OMIM:612567
Cystinosis
Hypokalemia, Failure to thrive, Hypophosphatemia, Type I diabetes mellitus, Rickets ORPHA:213
Sweet Syndrome
Sterile abscess, Myositis, Leukocytosis, Acne inversa, Breast carcinoma, Acute myeloid leukemia, ... ORPHA:3243
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body weight, Increased body mass index OMIM:614450
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Eczematoid dermatitis, Aplasia of the th... OMIM:242700
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Knee flexion contracture, Elevated circulati... ORPHA:79322
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice,... OMIM:231680
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Obesity, Hyperlipidemia, Arthrogryposis multiplex congenita ORPHA:254346
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Decreased serum zinc, Cholestasis, Elevat... ORPHA:541423
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Harlequin Ichthyosis
Erythroderma ORPHA:457
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Small for gestational age, Insulin-resistant diab... ORPHA:2959
Monosomy 13Q34
Hepatic steatosis, Obesity, Insulin resistance, Infantile hypercalcemia ORPHA:96168
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia, Hypophosphatemia OMIM:307800
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Infectious encephalitis, Autoimmune hemolytic anemia, Autoimmune thrombocytop... ORPHA:391487
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Histiocytosis, Absent natural killer cells, Increased T cell count, A... ORPHA:2442
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Enamel hypoplasia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotei... OMIM:309000
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Smith-Magenis Syndrome
Joint stiffness, Failure to thrive in infancy, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:819
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hyperlipidemia, Hyponatremia, Obesity, Elevated hepatic transaminase, Hyperglycemia ORPHA:293987
Biotinidase Deficiency
Recurrent skin infections, Splenomegaly, Seborrheic dermatitis, Conjunctivitis, Skin rash OMIM:253260
Wilson Disease
Glycosuria, Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility, Chondrocalcinosis, H... OMIM:277900
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Hemolytic anemia OMIM:177000
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Hypercholesterolemia, Failure to thrive, Neonat... ORPHA:90674
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Osteomalacia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Autoimmune antibody positivity, Lymphoma, Abnormal spleen p... ORPHA:398063
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaundice, Overwe... ORPHA:26793
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Chr... OMIM:614921
Necrobiosis Lipoidica
Granuloma, Squamous cell carcinoma, Abnormality of neutrophil physiology, Inflammatory abnormalit... ORPHA:542592
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Osteopenia, Hypercholesterolemia, Osteoporos... ORPHA:79259
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Epididymitis,... OMIM:307200
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204