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Gene: Fgl1 MGI:102795

Gene Summary

Name:

fibrinogen-like protein 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased bone mineral content	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	9.20×10^-07
increased circulating cholesterol level	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.64×10^-05
abnormal bone structure	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.95×10^-07
abnormal bone mineralization	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	4.41×10^-09
increased circulating glucose level	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.30×10^-05
increased circulating HDL cholesterol level	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	6.81×10^-07
increased lean body mass	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	4.69×10^-05
increased total body fat amount	Fgl1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.79×10^-05

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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.

Human diseases associated with Fgl1 (0 diseases)
Human diseases predicted to be associated with Fgl1 (662 diseases)

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	Matching phenotypes	Source
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth...	OMIM:616871
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Paget Disease, Extramammary	Neoplasm, Eczematoid dermatitis	OMIM:167300
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Verrucous Hemangioma	Inflammatory abnormality of the skin, Papilloma, Hemangioma	ORPHA:464318
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes...	ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Neoplasm, Erythroderma	ORPHA:2897
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr...	OMIM:615238
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Smooth muscle ...	OMIM:610163
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph...	OMIM:619924
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Immunodeficiency 50	Lymphopenia, Eczema, Neutropenia	OMIM:300988
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis	OMIM:619693
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
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
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli...	ORPHA:528
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy	ORPHA:79087
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel...	OMIM:619510
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Essential Fructosuria	Hyperglycemia, Abnormality of glycolipid metabolism	ORPHA:2056
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A...	OMIM:619375
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Omenn Syndrome	Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi...	ORPHA:39041
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, T lym...	ORPHA:217390
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He...	OMIM:248370
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Donohue Syndrome	Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Hepatic fibrosis, P...	OMIM:246200
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Cholestasis, Failure ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Cholestasis, Failure ...	ORPHA:71526
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Chronic or...	OMIM:212050
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur...	ORPHA:77296
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Hematological neoplasm, Pruritus, Pustule, Crusting erythe...	ORPHA:79481
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod...	ORPHA:169154
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope...	OMIM:304790
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Cernunnos-Xlf Deficiency	Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li...	ORPHA:2348
Immunodeficiency 102	Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C...	OMIM:301082
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la...	OMIM:618108
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Pruritus, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp...	OMIM:618459
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased body weight, Abdominal obesity, Hyperglycemia	OMIM:615954
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, B lymphocytopenia	OMIM:616941
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Sézary Syndrome	Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Neoplasm of the skin, Erythroderma, ...	ORPHA:3162
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst...	OMIM:301080
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody p...	OMIM:618048
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Obesity, Joint hypermobility	ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Peeling Skin Syndrome 1	Pruritus, Eosinophilia, Erythroderma	OMIM:270300
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel...	OMIM:618944
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr...	OMIM:261680
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration	ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit...	ORPHA:139402
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen...	OMIM:269880
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste...	ORPHA:71
Immunodeficiency 70	Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce...	OMIM:618969
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Hepatocellular carcinom...	ORPHA:465508
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Recurrent p...	OMIM:614868
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity	OMIM:619737
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, B lymphocytopenia, Re...	ORPHA:397596
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Laron Syndrome	Hypercholesterolemia, Osteoarthritis, Hypoglycemia, Truncal obesity	ORPHA:633
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T...	OMIM:618982
Galactokinase Deficiency	Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increased level of galactitol in plasm...	ORPHA:79237
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increase...	OMIM:616005
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu...	OMIM:607594
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Reduced natural killer cell count, Neutropenia	OMIM:615214
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac...	OMIM:618156
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub...	OMIM:615710
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Hypereosinophilia, Chronic rhinitis, Erythr...	OMIM:256500
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent...	OMIM:301078
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ly...	OMIM:615559
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Lipodystrophy	ORPHA:300536
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased circulating cortisol l...	OMIM:615830
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis, Absent circula...	OMIM:620282
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	ORPHA:280365
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin	OMIM:254400
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand...	ORPHA:275
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:603909
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp...	ORPHA:93160
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti...	OMIM:612692
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Potocki-Lupski Syndrome	Failure to thrive, Small for gestational age, Hypocholesterolemia	OMIM:610883
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase, Increased intr...	ORPHA:681
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art...	OMIM:604416
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc...	ORPHA:96184
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Diffuse Cutaneous Mastocytosis	Pruritus, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis, Erythroderma	ORPHA:79456
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, T lymphocyto...	OMIM:615513
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy...	OMIM:616026
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Multiple mye...	ORPHA:48377
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma, Punctate keratitis, Erythroderma	OMIM:602540
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets, Glycosuria	OMIM:615605
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia	OMIM:246400
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Abnormal subcutaneous fat tissue ...	OMIM:212065
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Anti...	ORPHA:486
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ...	ORPHA:70593
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha...	ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin	ORPHA:90159
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ...	OMIM:102700
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O...	ORPHA:79240
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity	OMIM:614662
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia	OMIM:613388
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr...	OMIM:618986
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, St...	OMIM:618282
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's...	OMIM:619705
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ...	ORPHA:79303
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Hyperglycemia	ORPHA:90065
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic lupus erythematosus	ORPHA:90036
Immunodeficiency 97 With Autoinflammation	Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti...	OMIM:619802
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased ...	ORPHA:331235
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester...	ORPHA:96180
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Recurrent sinusitis, Absent circulating B cells	OMIM:619707
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Recurrent hypoglycemia, Abnormal adipose tissue morp...	ORPHA:79324
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili...	ORPHA:331206
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Failur...	ORPHA:3008
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia...	ORPHA:1901
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hypokale...	ORPHA:508
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia	ORPHA:89937
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia	OMIM:211600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure ...	OMIM:236200
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria	OMIM:134600
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Ichthyosis With Confetti	Pruritus, Erythroderma	OMIM:609165
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner...	ORPHA:157215
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti...	OMIM:231530
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Aromatase Deficiency	Eunuchoid habitus, Insulin resistance, Hyperlipidemia, Obesity, Type II diabetes mellitus, Hepati...	ORPHA:91
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, C...	ORPHA:443811
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype...	ORPHA:769
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Retinitis Pigmentosa	Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:791
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 r...	ORPHA:572
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ...	ORPHA:14
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell ...	ORPHA:3261
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count...	OMIM:618394
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Atypical Werner Syndrome	Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Insulin-resistant diabet...	ORPHA:79474
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Pruritus, Pustule, Autoimmune antibody posit...	ORPHA:555905
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:264700
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Failure to thrive, Rickets	OMIM:611590
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Netherton Syndrome	Skin rash, Eczema, Erythroderma	ORPHA:634
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:3085
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Erythrode...	OMIM:615895
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras...	ORPHA:35078
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypercholesterolemia, Joint hyperflexibility	ORPHA:2479
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Obesity, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye...	ORPHA:48104
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b...	OMIM:300009
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, Optic neuritis, B ...	OMIM:301081
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati...	OMIM:307800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Pruritus, ...	ORPHA:3260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie...	ORPHA:37042
Neuhauser Syndrome	Osteopenia, Hypercholesterolemia	OMIM:249310
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Cholestasis, Hypoglycemic seizures, Hyperbilirubin...	OMIM:609734
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Obesity	ORPHA:254346
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema	ORPHA:703
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Dermatitis Herpetiformis	Pruritus, Autoimmunity, Eczema, Microcytic anemia	ORPHA:1656
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat...	OMIM:600001
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Neoplasm of the lung, Arthritis, Neopla...	ORPHA:2796
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function	ORPHA:70472
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibros...	OMIM:616263
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, Hypercholesterolemia	ORPHA:819
Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to thrive	ORPHA:213
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Antiphospholipid antibody posi...	ORPHA:391487
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased body weight	OMIM:614450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Harlequin Ichthyosis	Erythroderma	ORPHA:457
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E...	OMIM:615508
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Thrombocytopenia	OMIM:614171
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Diabetes mellitus, Small for gestational age, Type II diabetes mellitus	OMIM:274300
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous ...	ORPHA:249
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity	OMIM:615981
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia	ORPHA:100024
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Increased sus...	ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole...	ORPHA:90674
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Arthriti...	OMIM:210250
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Cyanosis, Hyperlipidemia, Hyperkalemia, Obesity, Hyp...	ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D...	OMIM:618329
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat...	OMIM:309000
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Increased i...	ORPHA:79102
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Neutropenia, Lymp...	OMIM:617827
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:66628
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma	OMIM:242150
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Wilson Disease	Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice...	OMIM:277900
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper...	ORPHA:470
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Adrenocortical Carcinoma	Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In...	ORPHA:1501
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, Enamel h...	OMIM:212750
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:179494
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia, Bronchiectasis	OMIM:241600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets...	OMIM:220111
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c...	ORPHA:90041
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell...	OMIM:615966
Congenital Disorder Of Glycosylation, Type If	Erythroderma	OMIM:609180
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, B lymphocytopenia, Otitis media, Ab...	OMIM:602450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocy...	ORPHA:508542
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Trichothiodystrophy 1, Photosensitive	Squamous cell carcinoma, Keratoconjunctivitis sicca, Basal cell carcinoma, Erythroderma	OMIM:601675
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Glycosuria	OMIM:268315
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h...	OMIM:613658
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon...	ORPHA:293978
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule...	ORPHA:77297
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepat...	ORPHA:746
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil...	ORPHA:3337
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk...	ORPHA:293173
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ...	OMIM:229600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Pneumonia	OMIM:614069
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D...	ORPHA:90363
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy...	OMIM:300755
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent sinus...	OMIM:601495
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma	ORPHA:35173
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen...	OMIM:619487
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Steatorrhea	ORPHA:309031
Mccune-Albright Syndrome	Osteomalacia, Primary hypercortisolism, Recurrent fractures, Fibrous dysplasia of the bones, Poly...	ORPHA:562
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic...	ORPHA:20
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Decreased mean platelet volume, ...	OMIM:617718
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Flexion contra...	ORPHA:17
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive	ORPHA:436271
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Small for ge...	ORPHA:699
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Dubowitz Syndrome	Inguinal hernia, Hypocholesterolemia	OMIM:223370
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate...	ORPHA:466677
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased proportion o...	OMIM:619381
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Obesity	OMIM:610628
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h...	ORPHA:66634
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ...	ORPHA:405
Chondrodysplasia Punctata 2, X-Linked Dominant	Erythroderma	OMIM:302960
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness,...	ORPHA:534
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria, Failure to ...	ORPHA:411629
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de...	OMIM:270400
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Sotos Syndrome	Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neonatal jaundice...	OMIM:117550
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Glioma, Rhabdomyosarcoma, Recurrent pneumonia, Medullobla...	OMIM:251260
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosis	OMIM:617303
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Obesity	ORPHA:444077
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Bloom Syndrome	Small for gestational age, Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c	OMIM:210900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Multiple lipomas, Nephroblastoma, Seborrheic dermatitis	ORPHA:276280
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity	OMIM:219090
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Paradoxical increased corti...	ORPHA:96253
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for...	ORPHA:404454
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok...	ORPHA:18
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Facial capillary hemangioma, Leukocytosis, Hepatosplenomegal...	OMIM:274000
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron...	ORPHA:221139
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,...	ORPHA:198
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Abdominal obesity, Flexion contracture, Hepatic steatosis	OMIM:619321
22Q11.2 Deletion Syndrome	Acne, Autoimmunity, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of the thymus, Chr...	ORPHA:567
Perlman Syndrome	Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy...	OMIM:267000
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis	ORPHA:369950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,...	ORPHA:99226
Magel2-Related Prader-Willi-Like Syndrome	Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Failure...	ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Reduced blood urea nitrog...	OMIM:219800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto...	ORPHA:3455
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Steinert Myotonic Dystrophy	Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:273
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hepatitis, Weight loss,...	OMIM:615846
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco...	OMIM:618278
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortis...	ORPHA:99889
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Tall stature, Hypoglycemia, Elevated circulating alph...	ORPHA:116
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesicular he...	OMIM:300855
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen...	OMIM:619534
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Eosinophilia, Ant...	ORPHA:449395
Digeorge Syndrome	Acne, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Hypoplasia of t...	OMIM:188400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Overweight, Jaundice, Obesity, Hyperbilirubinemia, Decreased body ...	OMIM:619475
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of the liver, Annular pa...	ORPHA:1606
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Portal ...	ORPHA:64
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Recurrent skin infections, Eczema, Erythroderma	OMIM:308205
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Portal hypertension, Flexi...	OMIM:619503
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Carney Complex	Neoplasm of the pancreas, Dorsocervical fat pad, Increased body weight, Increased circulating cor...	ORPHA:1359
Hellp Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:244242
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer...	ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fgl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fgl1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The hepatokine FGL1 regulates hepcidin and iron metabolism during anemia in mice by antagonizing BMP signaling.	Blood (March 2024)	Fgl1^{tm1a(EUCOMM)Hmgu}	38232308
Fibrinogen-like Protein 1 Is a Major Immune Inhibitory Ligand of LAG-3.	Cell (December 2018)	Fgl1^{tm1a(EUCOMM)Hmgu}	30580966

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fgl1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Fgl1^{tm84212(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fgl1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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