Gene Summary

Name:
peroxisome proliferator activated receptor gamma
Synonyms:
Ppar-gamma2,  PPARgamma2,  PPARgamma,  PPAR-gamma,  Nr1c3

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Ppargtm1b(KOMP)Wtsi HET Early adult 2.46×10-07
decreased lean body mass Ppargtm1b(KOMP)Wtsi HET Early adult 2.29×10-06
embryonic lethality prior to tooth bud stage Ppargtm1b(KOMP)Wtsi HOM   E12.5 0.00
abnormal gait Ppargtm1b(KOMP)Wtsi HET Early adult 5.45×10-08
preweaning lethality, complete penetrance Ppargtm1b(KOMP)Wtsi HOM   Early adult 0.00
increased fasting circulating glucose level Ppargtm1b(KOMP)Wtsi HET   Early adult 9.70×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Echo

M-Mode Images

20 Images

OPT E9.5

Embryo reconstruction

6 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Human diseases caused by Pparg 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.

The table below shows human diseases associated to Pparg by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Congenital Generalized, Type 3
Short stature, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepat... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly ORPHA:2398
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertension, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes me... OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... OMIM:232700
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... OMIM:615238
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ... OMIM:604367
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Diabetes mellitus, Hepatom... ORPHA:79084
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased ... ORPHA:79085
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... ORPHA:435651
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Hypertension, Elevated circulating ... OMIM:615980
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Decreased circulating IgA level, Increased ... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hypertriglyceridemia, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Congestive heart failure, Hypertension, Obesity, H... OMIM:615703
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Polyarticular arthritis OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... OMIM:610717
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... OMIM:619220
Mandibuloacral Dysplasia
Hypercholesterolemia, Alopecia, Hyperinsulinemia, Contractures of the large joints, Increased cir... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsutism, Increased intraabdominal fat, ... OMIM:151660
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congesti... ORPHA:90970
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Failure to thrive, Lipodystrophy,... OMIM:619858
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... OMIM:615381
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin re... ORPHA:528
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Immunodeficiency 64 With Lymphoproliferation
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... OMIM:618534
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Cellulitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Lipodystrophy... ORPHA:2348
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Short stature ORPHA:366
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased circulating IgG2 level, Bronchiectasis, Increased circulating IgM level, Decreased spec... OMIM:615513
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Cirrhosis, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Maternal diab... ORPHA:79083
Autoimmune Lymphoproliferative Syndrome
Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune... OMIM:601859
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... ORPHA:324575
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea... OMIM:608709
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Diabetes mellitus, Hypercholesterolemia, Obesity OMIM:608320
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hypert... ORPHA:79086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino... ORPHA:369
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Ventricular arrhythmia, Supraventricular arrhythmia, Reduced subcutaneo... ORPHA:280365
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Short stature, Type II diabetes mellitus, Insulin resistance, Failure to th... ORPHA:181393
Analbuminemia
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... OMIM:616000
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... OMIM:618982
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Immunodeficiency 61
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... OMIM:300310
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Lipodystrophy, Primary hypot... ORPHA:300536
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Flexion contracture, Weight loss, Reduced subcutaneous ... ORPHA:1979
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Syncope, Maternal diabetes... ORPHA:276580
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol... OMIM:306000
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Failure to thrive, Generalized lipodystrophy, Slender build ORPHA:50811
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Elevated circulating creatine kinase concentration ORPHA:154
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Primary... OMIM:616033
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Glycogen Storage Disease Iii
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin... OMIM:232400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... OMIM:617241
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Cardiac shunt OMIM:305800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Alopecia, Increased facial adipose tissue, Flexion contracture, Hyperinsuli... OMIM:248370
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... OMIM:606762
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Progressive loss of facial a... OMIM:613913
Combined Immunodeficiency, X-Linked
Pneumonia, Sinusitis, Otitis media, Decreased circulating IgG level OMIM:312863
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Vasculitis in the skin, Absence of subcutaneous... ORPHA:90159
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating IgA level, Agammaglob... OMIM:619707
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Eczema, Complete or near-complete a... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Drug-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90157
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Neonatal hypoglycemia, Hepatob... OMIM:130650
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypothermia, Hypert... OMIM:245400
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Hyperinsulinemia, Flexion contracture, Hyperglycemia, Brittle hair, Decreased adipose t... OMIM:608612
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Increased circulating ferritin concentration, Fever, Hepatomegaly, Hypertriglyceridemia... OMIM:603552
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Increased circulating IgM level, Arthritis ORPHA:37748
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Postprandial hypergl... OMIM:246200
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:616636
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol... OMIM:616516
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 3
Flexion contracture, Elevated hepatic transaminase, Failure to thrive, Lipodystrophy, Hepatomegal... OMIM:617591
Riboflavin Deficiency
Hypothermia, Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies... OMIM:603909
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recur... OMIM:612692
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613500
Immunodeficiency 27A
Rheumatoid factor positive, Increased inflammatory response, Increased circulating IgM level, Sal... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia ORPHA:199276
Niemann-Pick Disease, Type B
Short stature, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, ... OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissu... OMIM:608594
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... OMIM:300400
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Ankle clonus, Decreased T cell activation, Chronic oral candidiasis, He... OMIM:308230
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 2
Anti-thyroid peroxidase antibody positivity, Skin rash, Increased circulating IgG level, Anti-bet... OMIM:618048
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Aredyld Syndrome
Short stature, Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Hepatomegaly, Intra... ORPHA:1133
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Fever, Hepatomegaly, Hypertriglyceridemi... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hepatic steatosis, Failure to thrive, Hypoglycemia, Increased blood urea nitroge... OMIM:617872
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... OMIM:606069
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... OMIM:269700
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian i... ORPHA:79237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... OMIM:618495
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Stiff Skin Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Lipoatrophy, Short stature ORPHA:2833
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Secondary amenorrhea, Inappr... OMIM:301033
Preeclampsia
Increased body mass index, Small for gestational age, Elevated systolic blood pressure, Elevated ... ORPHA:275555
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:605814
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... ORPHA:1414
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... ORPHA:2849
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Growth delay OMIM:618010
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Short stature, Glycosuria, Elevated hepatic transaminase, Failure to thrive... ORPHA:2089
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Stiff Skin Syndrome
Knee flexion contracture, Lipodystrophy, Elbow flexion contracture, Camptodactyly OMIM:184900
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... OMIM:616828
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Temple Syndrome
Flexion contracture, Short stature, Small for gestational age, Obesity, Maturity-onset diabetes o... OMIM:616222
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Pneumo... OMIM:617638
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Increased circulating IgE level, Decreased ... OMIM:615767
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... OMIM:308240
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Increased circulating ferritin concentration, Fever, Hypertriglyceridemia, Sp... OMIM:613101
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor... ORPHA:2298
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... ORPHA:98855
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Secondary amenor... ORPHA:3085
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Hypo... ORPHA:159
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Infertility, Elevated transferrin sat... ORPHA:465508
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... ORPHA:209902
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... OMIM:240500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Idiopathic Congenital Hypothyroidism
Hypothermia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Hereditary Central Diabetes Insipidus
Polydipsia, Fever, Weight loss ORPHA:30925
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Zika Virus Disease
Wrist swelling, Conjunctivitis, Myelitis, Skin rash, Arthritis, Ankle swelling, Increased circula... ORPHA:448237
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Ecze... OMIM:243700
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Small for gestational age, Failure to thrive, Generalized lipodystrophy, Intrauter... OMIM:608154
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Neutropenia in presence of anti-... OMIM:607594
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Fever, Panniculitis, Hypertriglyceridemia, Splenome... OMIM:618398
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Atypical s... ORPHA:791
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:859
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Short Syndrome
Birth length less than 3rd percentile, Small for gestational age, Insulin resistance, Inguinal he... OMIM:269880
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia, Left ventricula... OMIM:614654
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... ORPHA:98853
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... ORPHA:370
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Antineutrophil antibody positivity ORPHA:2688
Whim Syndrome 1
Decreased circulating antibody level, Bronchiectasis, Decreased circulating IgG level OMIM:193670
Igg4-Related Aortitis
Antinuclear antibody positivity, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Short stature, Hyperlipidemia ORPHA:364
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Autoimmune Hepatitis
Fulminant hepatitis, Increased circulating antibody level, Anti-liver cytosolic antigen type 1 an... ORPHA:2137
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic glycogen, Short stature... ORPHA:264580
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
H Syndrome
Hernia, Short stature, Enlarged kidney, Camptodactyly, Hepatosplenomegaly, Lipodystrophy, Diabete... ORPHA:168569
Ruijs-Aalfs Syndrome
Decreased body weight, Hypogonadism, Elbow flexion contracture, Hepatocellular carcinoma, Lipodys... OMIM:616200
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Central Diabetes Insipidus
Weight loss, Failure to thrive, Fever, Hyponatremia, Polydipsia ORPHA:178029
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Obesity, Glucose intolerance, Postural hypotension with compensato... ORPHA:369873
Glycerol Kinase Deficiency
Short stature, Small for gestational age, Hypoglycemia, Growth delay, Hypertriglyceridemia OMIM:307030
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M... ORPHA:69126
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Alg3-Cdg
Lipodystrophy, Decreased liver function, Abnormality of the endocrine system, Arthrogryposis mult... ORPHA:79321
Familial Cervical Artery Dissection
Abnormality of connective tissue, Cerebral ischemia, Transient ischemic attack, Hypertension, Dia... ORPHA:36382
Idiopathic Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90158
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypothermia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bil... OMIM:618329
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Lack of T cell function, Inflammatory abnormality of... ORPHA:277
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function OMIM:601466
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... ORPHA:48377
Immunodeficiency 36 With Lymphoproliferation
Bronchiectasis, Autoimmunity, Decreased circulating IgA level, Increased circulating IgM level, D... OMIM:616005
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Keratoconjunctivitis sicca, Punctate keratitis, Thyroiditis, Uve... OMIM:617388
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... OMIM:619386
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... OMIM:252011
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hirsutism, Cryptorchidism, ... OMIM:175700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Short stature, Elevated ... ORPHA:79240
Glycogen Storage Disease Ixb
Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep... OMIM:261750
Familial Thyroid Dyshormonogenesis
Hypothermia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neo... ORPHA:95716
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Insulin resistance, Severe intrauterine growth retardat... ORPHA:73272
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Paragangliomas 6
Hypertension OMIM:618464
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Elevated circulating C-reactive protein concentration, Panniculitis, Failure to th... OMIM:617099
Werner Syndrome
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Hypertension, Con... ORPHA:902
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Gastrointesti... ORPHA:79319
Short Syndrome
Weight loss, Insulin resistance, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Severe short ... ORPHA:3163
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ... OMIM:614727
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... OMIM:609069
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short stature, Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperl... ORPHA:90154
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin... ORPHA:42
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis, Complement deficiency OMIM:216950
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Joint contracture of the hand, Arthropathy, Craniosynostosis, Hip dislocation, Ec... OMIM:618523
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Maturity-onset diabete... OMIM:609812
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F... ORPHA:444490
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Short stature, Reduced subcutaneous adipose tissue, Lipodystrophy, Diabete... OMIM:270450
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... OMIM:619924
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Decreased c... OMIM:618394
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Essential Fructosuria
Hyperglycemia ORPHA:2056
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... OMIM:615710
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... OMIM:618620
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... ORPHA:247585
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension OMIM:189800
Cimdag Syndrome
Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis OMIM:619273
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Premature graying of hair, Reduced... ORPHA:769
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, P... OMIM:615830
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... ORPHA:97279
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronchiectasi... OMIM:301082
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In... OMIM:617093
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... OMIM:246700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... OMIM:242860
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing ch... ORPHA:562639
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increase... ORPHA:412
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Weight loss, Neoplasm of the l... ORPHA:2126
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Arthritis, Otitis media, Pneumonia OMIM:601457
Permanent Congenital Hypothyroidism
Hypothermia, Jaundice, Short stature, Umbilical hernia ORPHA:226292
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Recurrent pancreatitis, Impaired glucose tolerance, Small for ge... OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... OMIM:600649
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... ORPHA:69663
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Hepatitis, Steatorrhea, Inguinal hernia, Postprandial hyperglycemia, Cholest... ORPHA:440713
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Transient ischemic attack, Lacunar stroke, Hypertension OMIM:616779
Cog7-Cdg
Small for gestational age, Jaundice, Recurrent fever, Elevated hepatic transaminase, Hepatospleno... ORPHA:79333
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia... ORPHA:276
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Atrophic scars, Lipodystrophy, Aortic valve stenosis, Atypical scarring of s... ORPHA:75496
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... OMIM:301081
Graft Versus Host Disease
Jaundice, Fasciitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatosplenomegaly, Failu... ORPHA:39812
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Arthritis, Monoclonal elevation of IgG, Membranoprolifer... ORPHA:91139
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... OMIM:619824
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... ORPHA:71
Subacute Inflammatory Demyelinating Polyneuropathy
Limited hip movement, Increased circulating IgG level, Limitation of movement at ankles, Limited ... ORPHA:206594
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Elevated hepatic transam... OMIM:256040
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
Mu-Heavy Chain Disease
Increased circulating antibody level, Osteolysis, Osteoporosis ORPHA:100024
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... ORPHA:158057
Cystinosis
Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets, Failure to thrive, Fever, Polyd... ORPHA:213
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Increased circulating IgG ... OMIM:615934
Multiple Endocrine Neoplasia Type 4