Gene Summary

Name:
adiponectin receptor 1
Synonyms:
2810031L11Rik

IMPC Data Collections

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
abnormal retina outer nuclear layer morphology Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 4.82×10-26
decreased lymphocyte cell number Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.35×10-05
increased blood urea nitrogen level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 9.41×10-05
decreased total retina thickness Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 8.14×10-29
abnormal auditory brainstem response Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.65×10-05
decreased circulating alkaline phosphatase level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 2.06×10-07
increased circulating triglyceride level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 5.63×10-05
increased circulating HDL cholesterol level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.07×10-12
increased red blood cell distribution width Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.26×10-15
increased neutrophil cell number Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 3.57×10-05
abnormal retina morphology Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 6.23×10-17
decreased circulating calcium level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.52×10-07
decreased exploration in new environment Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 6.82×10-08
decreased cornea thickness Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.28×10-07
increased circulating cholesterol level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.11×10-09
increased circulating phosphate level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 6.45×10-07
increased circulating alanine transaminase level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 4.75×10-05
abnormal heart left ventricle morphology Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.81×10-05
decreased hemoglobin content Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.54×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote Not available
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lymph node 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)
Skeletal muscle 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)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Immunophenotyping

Panel B FCS file(s)

13 Images

Immunophenotyping

Panel A FCS file(s)

13 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Adipor1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Adipor1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
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 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity OMIM:615961
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal enz... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Niemann-Pick Disease, Type B
Abnormal macular morphology, Mental deterioration, Splenomegaly, Anemia, Bone-marrow foam cells, ... OMIM:607616
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Type II diabetes mellitus, ... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentratio... OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Diabetes mellitus, Type II diabetes mellitu... ORPHA:181393
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Sensorineural hearing impairment, Cataract, Pigmentary retinop... OMIM:204000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Poikilocytosis, Decreased serum iron, Anisocytosis, Retinal a... OMIM:616959
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial hyperglycemia ORPHA:2089
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia OMIM:146200
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, T... ORPHA:552
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Anxiety, Hypocalcemia, Cataract, Irritability, Hyperphosphatemia, Hypocalc... ORPHA:36913
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment, Splenomegaly ORPHA:172
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Low-frequency sensorineural hea... OMIM:613101
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Transient hypophosphatemia, Hypocalcemia, Papilled... OMIM:127000
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia, Facial palsy, Optic atrophy, Hearing impairment ORPHA:53
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Anxiety, Hypocalcemia, Cataract, Irritability, Hyperphosphatemia, Hypocalc... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Cardiomyopa... OMIM:610717
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly, Hearing i... OMIM:619658
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Hyperphosphatemia OMIM:239350
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Attenuation of retinal ... OMIM:604393
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Sensorineural hearing impairment, Hyperuricemia,... OMIM:239000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior OMIM:618010
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Mental deterioration, Hypophosp... ORPHA:2611
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Pseudohypoparathyroidism, Type Ic
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, React... ORPHA:276556
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Retinal detachment, Abnormal heart morphology, Self-mutila... OMIM:182290
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Right atrial... OMIM:619313
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia OMIM:615924
Pseudohypoparathyroidism, Type Ia
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Developmental cataract, Hypocalcemic seizures, Papilledema, Anemia, Hyperp... ORPHA:93325
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Irritability, Optic disc pallor, ... OMIM:259720
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia, Hearing impairment OMIM:614207
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Facial palsy, Facial paralysis, Thrombocytopeni... OMIM:259700
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Anxiety, Abnormal autonom... ORPHA:94093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Cognitive impairment, Hyperlipidemia, Elevated circulating creatinine concentrati... OMIM:235400
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Macular... ORPHA:251004
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sensorineural hearing impairment, Hypocalcemia, Neutropeni... ORPHA:47
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Elevated tissue non-specific alkali... ORPHA:785
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Low-set ears, Hypocalcemia, Hyperphosphatemia, Posteriorly rotated ears OMIM:241410
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Angioid streaks of the fundus, Calcinosis, Hyperphosphat... OMIM:211900
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... ORPHA:791
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Mitral valve ... OMIM:229200
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Microtriplication 11Q24.1
Hyperlipidemia, Attached earlobe, Posteriorly rotated ears, Keratoconus, Hearing impairment ORPHA:289522
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Hearin... ORPHA:65
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Hemolytic anemia, Hypertr... ORPHA:650
Sanjad-Sakati Syndrome
Astigmatism, Hypocalcemia, Corneal opacity, Low-set, posteriorly rotated ears, External ear malfo... ORPHA:2323
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea, ... OMIM:614170
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Cardiomegaly OMIM:601005
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance OMIM:615980
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Psychomotor deterioration, Hypercholesterolemia, Sensorine... ORPHA:79237
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Autosomal Dominant Hypocalcemia
Anxiety, Hypocalcemia, Emotional lability, Hyperphosphatemia, Hypomagnesemia, Optic atrophy ORPHA:428
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Brittle Cornea Syndrome
Corneal dystrophy, Corneal scarring, Keratoglobus, Conductive hearing impairment, Sensorineural h... ORPHA:90354
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Congenital stationary night blindness, Decreased corneal thickness, Abnormalit... ORPHA:293967
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Oculocerebrodental Syndrome
Developmental cataract, Hypercalcemia, Conductive hearing impairment, Hypocalcemia, Sensorineural... ORPHA:557003
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypogonadism, Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance OMIM:615381
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase ORPHA:75563
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Abnormal enzyme/coenzyme activity,... ORPHA:79319
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Mental deterioration, Optic atrophy OMIM:618476
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Mental deterioration, Hypoalbuminemia, Hypertriglyceridemia, Ly... OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Adrenal calcification, Decreased HDL cholesterol concentration, P... OMIM:278000
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Ring Chromosome 10 Syndrome
Large earlobe, Low-set ears, Hypocalcemia, Aganglionic megacolon, Abnormal antihelix morphology ORPHA:1438
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 8
Lymphopenia OMIM:615401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Hypocalcemia, Retinal detachment, Patent foramen ovale OMIM:607143
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Chédiak-Higashi Syndrome
Pancytopenia, Cognitive impairment, Abnormal leukocyte morphology, Anemia, Abnormality of neutrop... ORPHA:167
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Rhabdoid Tumor
Anemia, Irritability, Thrombocytopenia, Hypercalcemia ORPHA:69077
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Maturity-onset diabetes of the young, Precocious puberty, Hypercholesterolemia ORPHA:254531
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormality of iron homeostasis, An... ORPHA:848
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Myocardi... ORPHA:31824
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Anxiety, Hypocalcemia, Cataract, Irritability, Calcinosis, Hyperphosphatem... ORPHA:79444
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Cognitive impairment, Hyperphosphatemia, Hearing impairment ORPHA:457059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Hypotonia-Cystinuria Syndrome
Facial palsy, Hypocalcemia, Macrotia, Posteriorly rotated ears OMIM:606407
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Hypoalbuminemia OMIM:208920
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenomegaly, Hypercholest... OMIM:238600
Arthrogryposis, Distal, Type 5
Keratoglobus, Abnormality of retinal pigmentation, Astigmatism, Protruding ear, Keratoconus OMIM:108145
Hypophosphatasia
Anemia, Irritability, Hypercalcemia ORPHA:436
Short Syndrome
Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic failure, Hypoglycemia, Hypogonadism OMIM:617872
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hearing impairment, Cataract, Conjunctivitis, Pigmentary retinopat... ORPHA:90321
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Atrial septal defect, Hypocalcemia... ORPHA:26793
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia, Cognitive impairment OMIM:300555
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Hypocalcemia, Cataract, Splenomegaly, Corneal stro... ORPHA:699
Chronic Bilirubin Encephalopathy
Hypernatremia, Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal audito... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529799
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Seckel Syndrome 10
Glycosuria, Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elev... OMIM:617253
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Irritability, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Anxiety, Hypocalcemia, Sensorineural hearing impairment,... ORPHA:79443
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypoglycemic seizures, Neonatal hypoglycemia, Hypothyroidism, Panhypopitui... OMIM:262600
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Hyperphosphatemia, Optic atrophy, Hearing impairment OMIM:101800
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Decreased serum testosterone ... ORPHA:465508
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Oculoskeletodental Syndrome
Developmental cataract, Hypercalcemia, Hypocalcemia, Splenomegaly, Hearing impairment OMIM:618440
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Abnormal retinal morphology, Conductive hearing impairment, Hypocalcemi... ORPHA:2785
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia ORPHA:664
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Memory impairment, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Azotemia, Familial
Azotemia OMIM:109160
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:617156
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Dementi... OMIM:604290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hyperlipidemia, Memory impairment, Hepatosplenom... ORPHA:444490
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Mitral valve prolapse ORPHA:1563
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hyperinsulinemic hypoglycemia OMIM:602579
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Low-set ears, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia, ... OMIM:618183
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Cardiomyocyte mitochondrial proliferation,... ORPHA:423
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Jaundice, Adrenal hypoplasia, Adrenoc... OMIM:201400
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis, Decreased LDL cholesterol concentration OMIM:615558
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged somatosensory ev... OMIM:616648
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cartilage-Hair Hypoplasia
EEG abnormality, Cognitive impairment, Abnormality of retinal pigmentation, Hypocalcemia, Agangli... ORPHA:175
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Cog4-Cdg
Hepatosplenomegaly, Irritability, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Sensorineural hearing impairment,... ORPHA:540
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia, Left ventricular hypertrophy, Cardiomyopathy ORPHA:746
Adamantinoma
Hypercalcemia ORPHA:55881
Velocardiofacial Syndrome
Tetralogy of Fallot, Mood swings, Posterior embryotoxon, Hypocalcemia, Aggressive behavior, Retin... OMIM:192430
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract, Small earlobe, Sensorineural hearing impairment, Cardiomyopathy, Hypertrigl... ORPHA:98907
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Self-injurious behavior, Anxiety, Conductive hearing impai... ORPHA:819
Double Outlet Right Ventricle
Tetralogy of Fallot, Abnormality of cartilage of external ear, Hypocalcemia, Double outlet right ... ORPHA:3426
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Leukocytosis, Memory impairment, Hypercholesterolemia, Progressive neurolog... ORPHA:90065
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Left ventricular hypertrophy, Corneal opacity, Anem... ORPHA:31150
Griscelli Syndrome Type 1
Retinopathy, Hyperlipidemia, Iris hypopigmentation ORPHA:79476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia, Optic atrophy OMIM:251900
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia, Lymphopenia ORPHA:1116
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Glycerol Kinase Deficiency
Low-set ears, Hypertriglyceridemia OMIM:307030
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Low-set ears, Hypocalcemia, Splenomegaly, Ventricular septal defect OMIM:235255
Placental Insufficiency
Insulin resistance ORPHA:439167
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Aniridia, Asplenia OMIM:602361
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Ac... ORPHA:71212
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:370
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Anxiety, Hypocalcemia, Iron deficiency anemia, Macrocytic anemia, Steatorrhea OMIM:212750
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Conductive hearing impairment, Hypertensive retinopathy, Panic... ORPHA:94080
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism ORPHA:73272
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Abnormal anterior chamber morphology, Iridodonesis, Hypercholesterolemia, Hypopl... ORPHA:2479
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Gaisböck Syndrome