Gene Summary

Name:
thyrotropin releasing hormone
Synonyms:
N/A

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
increased circulating HDL cholesterol level Trhem1(IMPC)Tcp HOM Early adult 1.06×10-08
increased circulating creatinine level Trhem1(IMPC)Tcp HOM Early adult 3.42×10-05
increased bone mineral content Trhem1(IMPC)Tcp HOM Early adult 5.92×10-08
abnormal stomach morphology Trhem1(IMPC)Tcp HOM Early adult 0.00
small kidney Trhem1(IMPC)Tcp HOM Early adult 0.00
increased circulating cholesterol level Trhem1(IMPC)Tcp HOM Early adult 7.18×10-12
decreased heart weight Trhem1(IMPC)Tcp HOM Early adult 5.65×10-05
hypoactivity Trhem1(IMPC)Tcp HOM   Early adult 7.00×10-05
small heart Trhem1(IMPC)Tcp HOM Early adult 0.00
increased bone mineral density Trhem1(IMPC)Tcp HOM Early adult 2.97×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

4 Images

Immunophenotyping

Panel B FCS file(s)

4 Images

Human diseases caused by Trh 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 Trh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1,... OMIM:615961
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Pituitary dwarfism, Impaired growth-hormone response to insul... OMIM:262400
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation OMIM:601410
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Growth delay, Hypoglycemia, Delayed puberty, Short ... ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Intrauterine growth reta... ORPHA:99886
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Short stature, Impaired ... OMIM:262700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Growth delay, Hypoglycemia, Delayed puberty, Short ... ORPHA:314811
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Postnatal growth retardation, Hypoglycemia, Short stature, Hypogonadism OMIM:616113
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Short stature, Postnatal growth retardation, Decreased response to growth hormone s... OMIM:618160
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Central adrenal ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Central adrenal ... ORPHA:71526
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Postnatal growt... OMIM:246200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis ORPHA:564003
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Mueller-Weiss Syndrome
Limitation of movement at ankles, Difficulty walking, Sclerosis of foot bone, Joint stiffness, Kn... ORPHA:566943
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty, Short stature, Microcephaly OMIM:616033
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Renal cyst, Increased bone mine... OMIM:109130
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Glomerulonephritis... ORPHA:567544
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Nephrotic sy... OMIM:616730
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Dystonia, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinin... ORPHA:79233
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Short stature, Glycosuria ORPHA:2089
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Temple Syndrome
Hypercholesterolemia, Joint hypermobility, Flexion contracture, Hypertriglyceridemia, Cleft palat... OMIM:616222
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, F... OMIM:616733
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Growth delay, Pituitary hypothyroidism, Hyp... ORPHA:95619
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Esophageal varix ORPHA:75234
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Thyroiditis, Postnatal growth retardation, Delayed ... OMIM:618985
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Intrau... OMIM:615710
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Isolated Osteopoikilosis
Ectopic kidney, Generalized osteosclerosis ORPHA:166119
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:181393
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Elevated circulating creatinine concentration, Dextrocardia, Polycystic k... OMIM:613095
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimuation test, Anterior pituitary hypoplasia, Pituitary dw... OMIM:221750
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysmetria OMIM:606721
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures, Hyperuricemia... OMIM:239000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Urinary bladder sphincter dysfunction, Dystonia, Dysphagia, Elevated alpha-... ORPHA:64753
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Narrow palate, Increased bone mineral den... OMIM:265800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Agenesis of corpus callosum OMIM:175700
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Elevated circulating creatinine concen... OMIM:602088
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Abnormal circulating h... ORPHA:280356
Preeclampsia
Acute kidney injury, Helicobacter pylori infection, Elevated circulating creatinine concentration... ORPHA:275555
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Hypertriglyceridemia, Hyperactivity, Velopharyng... OMIM:182290
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemia, Impaired ... ORPHA:769
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Nephrotic sy... OMIM:618348
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, High palate, Joint hypermobility ORPHA:254531
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany, Low urinary cyclic... ORPHA:94089
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Short Syndrome
Glucose intolerance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, ... OMIM:269880
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Hepatomegaly, Decreased serum testosterone c... ORPHA:465508
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Hepatocellular carcinoma, Enuresis, Acute hypera... ORPHA:247585
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant dia... OMIM:248370
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Joint hypermobility, Cleft palate, Bifid uvula, High palate, Pyloric stenosis ORPHA:96184
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Growth delay, Hepat... ORPHA:2088
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Postnatal growth retardation OMIM:615361
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Laryngeal dystonia, Calcium ne... ORPHA:36913
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Macroglossia, Bone cyst, Hypertriglyceridemia, Increased C-peptide level, H... ORPHA:528
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestasis, Subcortical cerebral atrophy, Hepatitis, Cholestatic liv... ORPHA:440713
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Microcephaly, Hyperglycemia, Diabetes mellitus OMIM:609069
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Hypoplasia of penis ORPHA:633
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Pathologic... ORPHA:470
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Temple Syndrome
Cryptorchidism, Postnatal growth retardation, Short stature, Type II diabetes mellitus, Recurrent... ORPHA:254516
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Neoplasm of the liver, Hypoglycemia, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Hypoglycemia, Ectopic posterior pituitary, De... ORPHA:95496
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Increased bone mineral density, Abnormal vertebral segmentation and f... ORPHA:90650
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Dysphagia, Ataxia, Bifid uvula, High palate, Osteopenia OMIM:249310
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Short statu... ORPHA:3085
Aapoaiv Amyloidosis
Cardiac amyloidosis, Proteinuria, Abnormality of the gastrointestinal tract, Elevated circulating... ORPHA:439232
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fractur... OMIM:259700
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Abnormal heart morphology, Hepatocellular adenoma, Hepatocellular carcinoma... ORPHA:370
Dysosteosclerosis
Ventricular septal defect, Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral... ORPHA:1782
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoart... ORPHA:53
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Craniosynostosis, Hyperphosphaturia, Abn... ORPHA:289176
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Hypercholesterolemia, Renovascular hypertension, Bicuspid aortic valve ORPHA:401923
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Hypopituitarism ORPHA:90065
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Hypercholesterolemia, Hepatocellular adenoma, Esophageal varix, Renal tubular acido... ORPHA:264580
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Joint hyperflexibility, Ataxia, High palate, Osteopenia ORPHA:2479
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Pyloric stenosis, Aminoaciduria ORPHA:664
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Microcephaly, Postnatal growth retardation OMIM:600546
Cog4-Cdg
Hypercholesterolemia, Ataxia, Recurrent infection of the gastrointestinal tract ORPHA:263501
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Renal insufficiency, Unilateral renal agenesis, Attention deficit hy... ORPHA:281090
Tenorio Syndrome
Hypoinsulinemia, Cerebral cortical atrophy, Cavum septum pellucidum, Hypoglycemia OMIM:616260
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Increased circ... ORPHA:91354
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Oligosacchariduria, Increased bone mineral density, Delayed patellar ... ORPHA:163649
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density, Joint stiffness,... ORPHA:628
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation, Intrauterine growth retardation... OMIM:614732
Systemic Sclerosis
Pericarditis, Acute kidney injury, Abnormal esophagus morphology, Chronic kidney disease, Abnorma... ORPHA:90291
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecularization, Aortic valve... ORPHA:2780
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Adrenal insufficiency, Adrenocorticotropic hormone ex... OMIM:609981
Gaucher Disease Type 3
Osteolysis, Hematuria, Abnormal heart valve morphology, Mitral valve calcification, Pericardial e... ORPHA:77261
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Decreased circulating lute... OMIM:228300
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308700
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Gastroesophageal reflux, Abnormality of the ureter, Hyper... ORPHA:819
Scleroderma
Abnormal stomach morphology, Osteomyelitis, Intestinal bleeding, Pericarditis, Acute kidney injur... ORPHA:801
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Esophageal varix, Hypertriglyceridemia, Decreased HDL choleste... OMIM:278000
Majeed Syndrome
Flexion contracture, Synovitis, Increased bone mineral density, Microscopic hematuria, Increased ... ORPHA:77297
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Gaucher Disease Type 1
Osteolysis, Hematuria, Pericardial effusion, Increased bone mineral density, Pathologic fracture,... ORPHA:77259
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... ORPHA:99885
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Xanthelasma, Hypercholesterolemia, Osteoporosis, Tubulointer... ORPHA:79259
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Increased level of galactitol in u... ORPHA:79237
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Ost... ORPHA:232
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Growth delay, Absence of seco... ORPHA:90695
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Ménétrier Disease
Multiple gastric polyps, Hypoproteinemia, Gastrointestinal hemorrhage, Helicobacter pylori infect... ORPHA:2494
Nephrotic Syndrome, Type 1
Hypoproteinemia, Gastroesophageal reflux, Glomerular sclerosis, Hypoalbuminemia, Diffuse mesangia... OMIM:256300
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulatin... ORPHA:730
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Gaucher Disease
Osteolysis, Hematuria, Arthrogryposis multiplex congenita, Abnormal heart valve morphology, Mitra... ORPHA:355
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white matter atrophy, Increased caud... ORPHA:3008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Premature adrenarche, Central hypothyroidism, Decreased response to growth hormone ... ORPHA:293987
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Macroglossia, Lethargy, Delayed proximal femoral epiphyseal ossification, N... ORPHA:90674
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration,... OMIM:210250
Erdheim-Chester Disease
Dysuria, Xanthelasma, Osteolysis, Abnormal aortic valve morphology, Abnormal pericardium morpholo... ORPHA:35687
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abn... ORPHA:90652
Oligomeganephronia
Decreased numbers of nephrons, Secundum atrial septal defect, Elevated circulating creatinine con... ORPHA:2260
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormal mitral valve morphology, Abnormality of the gastroin... ORPHA:1876
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Cerebral atrophy, Hepatomegal... ORPHA:363400
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Postnatal growth retardation,... ORPHA:556037
Bronchogenic Cyst
Abnormal stomach morphology, Dysphagia, Abnormal esophagus morphology, Abnormal pericardium morph... ORPHA:2357
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Acute kidney injury, Intussusception, Anuria, Elevated cir... ORPHA:90038
Craniopharyngioma
Proportionate short stature, Abnormal hypothalamus morphology, Enlarged pituitary gland, Growth d... ORPHA:54595
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Intestinal malrotation, Osteopoikilosis, Ectopic kidney ORPHA:94063
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Gout, Decreased HDL cholesterol concentr... ORPHA:412
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Bifid uvula, Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteoscle... OMIM:241410
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis, Ataxia OMIM:618476
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Desmosterolosis
Anomalous pulmonary venous return, Intestinal malrotation, Osteopetrosis, Increased bone mineral ... ORPHA:35107
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated circulating creatinine concentration, Glomerular sclerosis,... ORPHA:247691
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Dend Syndrome
Hyperglycemia ORPHA:79134
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Elevated ... OMIM:617478
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Reduced bone mineral density ORPHA:2617
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Pyloric stenosis, Gastroesophageal reflux, Joint hypermobility ORPHA:98892
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Septic arthritis, Glomerulonephritis... ORPHA:36234
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Postnatal growth retardation,... ORPHA:556030
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Hydroureter, Increased bone mineral density... OMIM:259775
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Increased bone mineral density, Pathol... OMIM:259900
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent fractures, Hypero... ORPHA:416
Williams Syndrome
Joint laxity, Abnormal endocardium morphology, Abnormal circulating lipid concentration, Increase... ORPHA:904
Schwartz-Jampel Syndrome
Osteoporosis, Shoulder flexion contracture, Arthrogryposis multiplex congenita, Gait disturbance,... ORPHA:800
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated circulating creatinine concen... ORPHA:91547
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Atrial septal defect, Craniosynostosis, Abnormal heart morphology, Gastroesophageal ref... ORPHA:261197
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Increas... ORPHA:79444
Desmosterolosis
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand, Cl... OMIM:602398
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Renal hypoplasia, Elevated circulating creatinine concentration, U... OMIM:137920
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Intestinal obstruction, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Breast hypoplasia, Decre... ORPHA:91355
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal urinary color, Abnormality of the gastric mucosa ORPHA:234
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Lenz-Majewski Hyperostotic Dwarfism
Facial hyperostosis, Abnormal penis morphology, Joint hyperflexibility, Elbow ankylosis, Osteopet... ORPHA:2658
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Increas... ORPHA:79443
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
X-Linked Hypophosphatemia
Hypophosphatemia, Renal phosphate wasting, Craniosynostosis, Hypocalciuria, Rickets, Generalized ... ORPHA:89936
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hyperpituitaris... ORPHA:91351
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:223900
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis ORPHA:2785
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Narrow palate, Hematuria, Hypercalciuria, Joint stiffness, Renal insufficie... ORPHA:534
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Thic... OMIM:127000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, ... ORPHA:363618
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute ... ORPHA:542323
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Absence of renal corticomedullary differentiation, Hyperbilirubinemia, Osteopetrosis OMIM:259720
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Joint hypermobility, Camptodacty... OMIM:309000
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Pyloric stenosis, Waddling gait OMIM:616924
Prolactinoma
Abnormality of the pituitary gland, Male hypogonadism, Elevated circulating growth hormone concen... ORPHA:2965
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Gro... ORPHA:95494
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Waddling gait, Sclero... OMIM:131300
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Ovarian neoplasm, Abnormality of circulating leptin l... ORPHA:79474
Alagille Syndrome 1
Hypercholesterolemia, Atrial septal defect, Ventricular septal defect, Focal segmental glomerulos... OMIM:118450
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Proportionate short ... ORPHA:71212
Trichothiodystrophy
Craniosynostosis, Gait ataxia, Ventricular septal defect, Increased bone mineral density, Multipl... ORPHA:33364
Pauci-Immune Glomerulonephritis
Acute kidney injury, Abnormality of the gastrointestinal tract, Elevated circulating creatinine c... ORPHA:93126
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Arthrogryposis multiplex congenita, Esophageal atresia, Elevated mate... OMIM:226730
Dysostosis, Stanescu Type
Macroglossia, Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Thyrot... ORPHA:79102
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Igg4-Related Kidney Disease
Ureteral obstruction, Sialadenitis, Pericarditis, Hematuria, Acute kidney injury, Enlarged kidney... ORPHA:449395
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Intrauterine growth retar... OMIM:600001
Poems Syndrome
Pericardial effusion, Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Werner Syndrome
Osteoporosis, Gastrointestinal carcinoma, Increased bone mineral density, Neoplasm of the small i... ORPHA:902
Marden-Walker Syndrome
Radioulnar synostosis, Zollinger-Ellison syndrome, Renal hypoplasia, Camptodactyly, Congenital co... OMIM:248700
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric ulcer, Gastric hypertrophy, Metacarpal periosteal thickening, Metata... OMIM:161700
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Metachromatic Leukodystrophy
Abnormal stomach morphology, Dystonia, Abnormal duodenum morphology, Intussusception, Gait distur... ORPHA:512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Nocturia, Elevated circulating creatinine concentration, Increased blo... ORPHA:230
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Midgut malrotation, Osteopenia, Cleft palate, Atrioventricular ca... ORPHA:2409
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Atrial septal defect, Truncus arteriosus, Crossed fused renal ectopia... ORPHA:2538
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect, Gastroesophageal reflux,... OMIM:156810
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Hypokalemia, Duodenal ad... OMIM:174900
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, High palate, Pyloric stenosis ORPHA:314575
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Dysphagia, Flexion contracture, Hypertriglyceridemia, Ileus, Elevated circulating c... OMIM:613327
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hypernatriuria, Hyponatremia, Abnormal urine potassium concent... ORPHA:275761
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Short stature, Microcephaly, Hyperglycemia, Decreased response to growth hormone ... ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... OMIM:618885
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... OMIM:300048
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, Craniosynostosis, Generalized joint laxit... ORPHA:93932
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Short stature, Abnormality of th... ORPHA:75389
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Nephrolithiasis, Hydroureter OMIM:617219
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Pyloric stenosis, Horseshoe kidney, Ventricular septal defect OMIM:218350
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Growth delay, Decreased testicular size, Streak ovary, Insulin-... ORPHA:3464
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Ataxia, Pulmonic stenosis, Knee flexion contract... ORPHA:435638
Scorpion Envenomation
Acute pancreatitis, Hyperglycemia, Hyperhidrosis, Glycosuria ORPHA:466677
Zellweger Syndrome
Epiphyseal stippling, Ventricular septal defect, High palate, Pyloric stenosis, Multicystic kidne... ORPHA:912
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal defect, Ventricul... ORPHA:457279
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Cleidocranial Dysplasia
Delayed pubic bone ossification, Narrow palate, Increased bone mineral density, Increased suscept... OMIM:119600
Griscelli Syndrome
Pyloric stenosis, Abnormal circulating lipid concentration, Ataxia ORPHA:381
Koolen-De Vries Syndrome
Narrow palate, Joint hyperflexibility, High, narrow palate, Ureteral duplication, Vertebral fusio... ORPHA:96169
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Pyloric stenosis, Penoscrotal transposition, Pulmonic stenosis, Anal atresia, Left... OMIM:619148
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Distal renal tubular acidosis OMIM:259730
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Situs inversus totalis, Radioulnar s... ORPHA:2461
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Gait disturbance, Oral-pharyngeal dysphagia, Intestinal ... ORPHA:273
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Synostosis of joints, Increased bone mineral density ORPHA:50945
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Abnormal heart morphology, Camptodactyly, Pyloric stenosis, Intesti... OMIM:305450
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Mildly elevated creatine kinase, Pyloric stenosis, Difficulty walking ORPHA:169189
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, Renal cortical microcysts, Hypospadias, High p... OMIM:601095
Apert Syndrome
Humeroradial synostosis, Narrow palate, Ventricular septal defect, Synostosis of carpal bones, Es... OMIM:101200
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Abnormal pu... ORPHA:667
Reynolds Syndrome
Dysphagia, Gastroesophageal reflux, Xerostomia, Abnormality of the gastric mucosa, Arthritis ORPHA:779
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Epiphyseal stippling, Ventricular septal defect, Renal hypoplasia, Gastroes... OMIM:270400
Kleefstra Syndrome
Macroglossia, Ventricular septal defect, Gastroesophageal reflux, Hypospadias, Vesicoureteral ref... ORPHA:261494
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Flexion contracture, Congenital pyloric atresia, Abnormality of the urethra... ORPHA:158684
Osteogenesis Imperfecta, Type X
Joint laxity, Generalized joint laxity, Osteopenia, Pyloric stenosis, Nephrolithiasis OMIM:613848
Prader-Willi Syndrome
Cryptorchidism, Hyperinsulinemia, Adrenal insufficiency, Delayed puberty, Short stature, Type II ... OMIM:176270
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Horseshoe kidney, Acute kidney injury, Joint hyperflexibility, Hyperuricemia, Multicystic kidney ... ORPHA:93111
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Macroglossia, Atrial septal defect, Hydroureter, Sclerosis of sk... OMIM:269150
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ventricular septal defect, Renal hypoplasia, Ectopic anus, Anal atresia,... ORPHA:3138
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Renal artery stenosis, Increased LDL cholesterol conc... ORPHA:391665
Cutis Laxa, Autosomal Recessive, Type Ic
Joint laxity, Gastroesophageal reflux, Bladder diverticulum, Rectal prolapse, Hydronephrosis, Pat... OMIM:613177
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:608594
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Gait disturbance, Gastroesophageal reflux, Unilateral renal agenesis, ... ORPHA:464306
Esophageal Atresia
Gastrointestinal dysmotility, Esophagitis, Morphological abnormality of the gastrointestinal trac... ORPHA:1199
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Esophagitis, Craniosynostosis, Joint hyperflexibility... ORPHA:3342
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Short stature, Microcephaly... ORPHA:314621
Cornelia De Lange Syndrome 1
Hiatus hernia, Limited elbow extension, Ventricular septal defect, Renal hypoplasia, Gastroesopha... OMIM:122470
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:269700
Distal Monosomy 12Q
Hyperactivity, Elbow flexion contracture, Esophageal atresia, Congenital hypertrophy of left vent... ORPHA:96149
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Urethral str... ORPHA:79403
Hennekam Syndrome
Hypocalcemia, Camptodactyly of finger, Craniosynostosis, Horseshoe kidney, Pericardial effusion, ... ORPHA:2136
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Pyelonephritis, Small bowel diverticula, Multiple bladder diverticula, Vesicoureter... ORPHA:90349
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Camptodactyly, Gastroesophageal reflux, Ulcerative colitis, Pulmonic stenosis... OMIM:617137
Tubulointerstitial Nephritis And Uveitis Syndrome
Mild proteinuria, Renal tubular epithelial necrosis, Elevated circulating creatinine concentratio... ORPHA:91500
Knobloch Syndrome
Bifid ureter, Joint hyperflexibility, Dextrocardia, Vesicoureteral reflux, Pyloric stenosis ORPHA:1571
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Hyperinsulinemia, ... ORPHA:99413
Ulnar-Mammary Syndrome
Anal stenosis, Ventricular septal defect, Anal atresia, Pyloric stenosis, Micropenis OMIM:181450
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Microphthalmia, Syndromic 1
Hydroureter, Renal hypoplasia, Camptodactyly, Aganglionic megacolon, Hypospadias, Rectal prolapse... OMIM:309800
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Aplasia of the ovary, Insuli... ORPHA:79318

Histopathology

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

There is no histopathology data for Trh

IMPC related publications

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

No publications found that use IMPC mice or data for Trh.

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