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Gene: Pdpk1 MGI:1338068

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
3-phosphoinositide dependent protein kinase 1
Synonyms:
Pdk1,  Pkb kinase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pdpk1 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 Pdpk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Oligospermia, Insulin resistance, Azoospermia, Obesity, H... OMIM:615703
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... OMIM:260370
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Insulin re... OMIM:612526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Primary amenorrhea, M... OMIM:604367
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... ORPHA:2470
Acquired Partial Lipodystrophy
Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin resistance, Hepatic steatosis ORPHA:79087
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Galactokinase Deficiency
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Small ... ORPHA:79237
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Anemia, Hyperglycemia OMIM:609069
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Cryptorchidism ORPHA:2849
Estrogen Resistance
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea, Impaired glu... OMIM:615363
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabe... ORPHA:79085
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Polycystic ov... ORPHA:2298
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine a... ORPHA:35878
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hypoplasia, Hepati... OMIM:610199
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Meckel Syndrome, Type 8
Encephalocele, Short neck, Anophthalmia, Microphthalmia OMIM:613885
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Ins... ORPHA:528
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abdominal obesity, Hepatic steatosis, Diabetes mellitus OMIM:615980
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Cirrhosis, Primary am... ORPHA:79083
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Diabetes m... OMIM:616033
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Glycosuria, Moderate albuminuria, Pancre... ORPHA:99885
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Insulin resistance, Oligomenorrhea, Decreased ser... ORPHA:435660
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... ORPHA:93111
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Insulin resistance, Cirrhosis, Menometrorr... ORPHA:90970
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypogonadism, Diabetes mellitus, Insulin resistance, Cryptorchidism, Hepatic steatosis OMIM:615381
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis ORPHA:363400
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Bilateral breast hyp... ORPHA:52901
Aromatase Deficiency
Type II diabetes mellitus, Ambiguous genitalia, female, Female infertility, Eunuchoid habitus, Hy... ORPHA:91
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... ORPHA:456312
17Q12 Microdeletion Syndrome
Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Renal insufficiency, Shawl scrotum... ORPHA:261265
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Secondary amenorrhea,... ORPHA:2348
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development,... ORPHA:785
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Bangstad Syndrome
Small for gestational age, Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly,... OMIM:602782
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Renal cyst, Hepatic fi... OMIM:602579
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Insulin-resist... ORPHA:79086
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... ORPHA:813
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrh... OMIM:235200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... OMIM:202110
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... OMIM:308750
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Failure to thrive, Cryptorchidism, Small for gestational age OMIM:214150
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... OMIM:203800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:73272
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Dextrocardia
Abnormality of the ureter, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal reproductiv... ORPHA:1666
Trisomy 13
Atrial septal defect, Anophthalmia, Ventricular septal defect, Optic atrophy, Cystic hygroma, Pat... ORPHA:3378
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Hemochromatosis, Type 4
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... OMIM:606069
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Webbed neck, Branchial anomaly ORPHA:1131
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Hypergonadotropic hypo... OMIM:617053
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Hydrolethalus
Anencephaly, Arrhinencephaly, Anophthalmia, Microphthalmia ORPHA:2189
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Cryptorchidism, Micropenis, Unilateral renal agenesis, Truncal obesity, Hypothyroidi... OMIM:616541
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,... OMIM:608594
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... ORPHA:2255
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... ORPHA:465508
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhos... OMIM:269700
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Decreased body wei... ORPHA:508
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Whipple Disease
Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Hypothyroidism, Erectile dysfu... ORPHA:3452
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Decreased serum lepti... ORPHA:280365
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Small for g... ORPHA:556955
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Myoglobinuria, Dicarb... ORPHA:71212
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Werner Syndrome
Slender build, Type II diabetes mellitus, Thyroid carcinoma, Ovarian neoplasm, Aplasia/Hypoplasia... ORPHA:902
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate cancer, Recurrent hypoglycemia... ORPHA:2126
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Insulin resistance, Truncal obesit... OMIM:209900
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Insulin resistance, Hepatic stea... OMIM:613327
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Hydroureter, Thrombocytopenia, Hypothyroidism, Hydronep... OMIM:222300
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:435651
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Biliary atresia, Glycosuria, Ureteral duplication, Pancreatic hypoplasia, Abse... OMIM:600001
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Ins... ORPHA:96182
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated urinary dopamine, Nocturia, Hypoglycemia, Retrograde ejaculation, Insu... ORPHA:230
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Adre... OMIM:130650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Abnormal autonomic nervous system physiology, Atriov... ORPHA:453499
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Trisomy 1Q
Anophthalmia, Ventricular septal defect, Cystic hygroma, Patent ductus arteriosus, Increased nuch... ORPHA:261344
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... ORPHA:358
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis, Metrorrhagia ORPHA:96168
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Alpha-a... OMIM:619991
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Short Syndrome
Insulin resistance, Weight loss, Diabetes mellitus ORPHA:3163
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Stage 5 chronic kidne... OMIM:608612
Holoprosencephaly
Abnormal pulmonary valve morphology, Microphthalmia, Short neck, Anophthalmia, Tetralogy of Fallo... ORPHA:2162
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Anophthalmia, Arrhinencephaly, Aganglio... OMIM:156810
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive prima... ORPHA:251274
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Anophthalmia, Tetralogy of Fallot, Hyp... OMIM:601186
Fibular Hemimelia
Spina bifida, Anophthalmia, Abnormal heart morphology ORPHA:93323
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hypoplastic spleen, Proteinuria, Pan... ORPHA:699
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Micropenis, Severe B lymphocytopenia, B lymphocy... ORPHA:83617
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Cockayne Syndrome Type 2
Intrauterine growth retardation, Delayed eruption of primary teeth, Anophthalmia ORPHA:90322
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anophthalmia, Microphthalmia ORPHA:77298
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Vacterl With Hydrocephalus
Anophthalmia, Arrhinencephaly, Microphthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Cushing Disease
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal... ORPHA:96253
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma ORPHA:2260
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... OMIM:248370
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Anophthalmia, Arrhinencephaly, Congenital muscular torticollis, Microphthal... ORPHA:2538
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Walker-Warburg Syndrome
Optic atrophy, Anophthalmia, Microphthalmia ORPHA:899
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Bloom Syndrome
Abdominal obesity, Abnormal proportion of CD8-positive T cells, Recurrent tonsillitis, Small for ... ORPHA:125
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Meckel Syndrome
Anencephaly, Anophthalmia, Situs inversus totalis, Optic atrophy, Microphthalmia, Encephalocele, ... ORPHA:564
Atypical Werner Syndrome
Failure to thrive, Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Decreased body ... ORPHA:79474
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Delayed p... OMIM:616263
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... ORPHA:352665
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Encephalocele, Anophthalmia OMIM:605627
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Ovotestis, Hypospadias, Adrenal gland agenesis OMIM:611812
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Optic atrophy, Abnormality of peripheral nerve... ORPHA:90321
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Persistence of primar... OMIM:300166
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomega... OMIM:557000
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Failure to thrive, Small for gestational age, Polyuria, Impaired glucose tol... OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Breast aplasia ORPHA:90153
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Ventricular septal defect, Intrauterine growth retardati... ORPHA:261330
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Branchial fistula, Optic disc coloboma, Ventricular septal defect, Pate... ORPHA:261337
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microp... OMIM:206900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Delayed puberty ORPHA:90154
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99228
Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... ORPHA:99226
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Aceruloplasminemia
Abnormal pancreas morphology, Hypochromic microcytic anemia, Elevated hepatic iron concentration,... ORPHA:48818
Charge Syndrome
Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Delayed eruption of teeth, ... ORPHA:138
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Microphthalmi... OMIM:214800
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... ORPHA:116
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Microphthalmia, Encephalocele ORPHA:861
Fraser Syndrome 1
Myelomeningocele, Anophthalmia, Bilateral microphthalmos, Encephalocele, Abnormal heart morphology OMIM:219000
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Abnormality of the thyroid gland, Prostatitis, Eosino... ORPHA:449432
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Decreased fertility in m... ORPHA:64
Tetraamelia Syndrome 1
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, A... OMIM:273395
Focal Dermal Hypoplasia
Myelomeningocele, Anophthalmia, Delayed eruption of teeth, Spina bifida occulta, Optic atrophy, U... OMIM:305600
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... ORPHA:2556
Branchiooculofacial Syndrome
Short neck, Anophthalmia, Branchial anomaly, Microphthalmia, Facial palsy, Intrauterine growth re... OMIM:113620
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Fanconi Anemia, Complementation Group D2
Annular pancreas, Pelvic kidney, Neutropenia, Micropenis, Anemia, Hypergonadotropic hypogonadism,... OMIM:227646
Fraser Syndrome
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele ORPHA:2052
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth ORPHA:2250
Shwachman-Diamond Syndrome 2
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... OMIM:617941
Microphthalmia With Limb Anomalies
Optic atrophy, Arrhinencephaly, True anophthalmia, Microphthalmia ORPHA:1106
Lesch-Nyhan Syndrome
Nephrolithiasis, Megaloblastic anemia, Testicular atrophy, Hyperuricosuria OMIM:300322
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia, Failure to thrive OMIM:615503
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Micropenis, Biliary atresia, Maturity-onset diabetes of the ... ORPHA:96149
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis... OMIM:236680
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Ventricular septal defect, Patent duct... ORPHA:141099
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Craniofacial Microsomia
Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchial... OMIM:164210
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Pubertal developmental failure in females, Decreased ... ORPHA:740
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Hep... OMIM:208500
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Hyperinsulinemic hypoglycemia, Leukocytosis, Recurrent tons... ORPHA:2968
Pmm2-Cdg
Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Nephrotic... ORPHA:79318
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Hydronephrosis, Asplenia ORPHA:210122
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Optic nerve hypoplasia, Short neck, Spina bifida occulta, Ventricu... ORPHA:508488
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Yellow Fever
Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Acute pancreatitis, Renal insufficiency, Acut... ORPHA:99829
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Microphthalmia OMIM:613406
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism ORPHA:3063
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Congenital hypothyroidism, Adrenal hyperplasia... ORPHA:79500
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Anophthalmia, Optic disc coloboma, Microphthalmia, Webbed neck, Aganglioni... OMIM:309800
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Absent first metatarsal, Partial duplication of the distal phalan... OMIM:101400

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 Pdpk1

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 Pdpk1.

No publications found that use IMPC mice or data for Pdpk1.

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MGI Allele Allele Type Produced
Pdpk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdpk1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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