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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:
Pkb kinase,  Pdk1

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, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Hypoplasia of penis... ORPHA:181393
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatosis, Type II diabetes m... OMIM:615703
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatic fib... ORPHA:280356
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Splenomegaly, Hepatosple... OMIM:612526
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin resistance, Insulin-r... ORPHA:90301
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia of penis, Hyp... ORPHA:791
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Hepatic steatosis, Microscopic hematuria, Proteinuria ORPHA:79087
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Impaired glucose tolerance, Biliary tract abnormality, Bicornuate uterus,... OMIM:137920
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Increased level of ... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology ORPHA:2849
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Hypoplasia of the uterus, Prim... OMIM:615363
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant ... ORPHA:79085
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Leukopenia, Insulin resist... ORPHA:2298
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gall... OMIM:615710
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary amenorrhea OMIM:616033
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Menometrorrhagia, Truncal obesity, Failure to thrive, Diabetes ... ORPHA:189427
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Insulin-resist... OMIM:604367
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Glucose intolerance, Pancreatitis, Insulin resistance OMIM:606721
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Amenorrhea, Hepatic steatosis, Oligomenorrhea, P... ORPHA:528
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adren... ORPHA:189439
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Long penis, Hyperinsulinemia, Postprandial hyperglycemia, Cli... OMIM:246200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resi... ORPHA:79083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Failu... OMIM:602579
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypospadias, Annular pancreas, Hypoplas... OMIM:601346
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Moderate albuminuria, Ketonuria, Weight loss, Glycosuria, Pancreatic hypoplasia, N... ORPHA:99885
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant ... ORPHA:435660
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic ... OMIM:557000
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Ambiguous genitalia, female, Hepatic steatosis, Hypergonadotr... ORPHA:91
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:276152
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Horseshoe kidney, Acute kidney injury, Hepatic steatosis, Absent vas deferens, Hypothyroidism, Mu... ORPHA:93111
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypogonadism, Diabetes mellitus OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Secondary amenorrhea, Pa... ORPHA:2348
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia, Shawl scrotum, Multicystic kidney dysplasia, Renal insufficie... ORPHA:261265
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreati... ORPHA:90970
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Delayed... ORPHA:456312
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestational age, Primary gon... OMIM:210740
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Hepatomegaly, Histiocytosis, Cervical lymphadenopath... OMIM:602782
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Diabetes m... OMIM:615830
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Glucose intolerance, Amenorrhea, Hepatocellular carcinoma, Impotence, Hep... OMIM:235200
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Insulin resistance, Premature adrenarche, Failure to ... ORPHA:813
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Meckel Syndrome, Type 8
Microcephaly, Short neck, Microphthalmia, Anophthalmia OMIM:613885
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Thrombocytopenia, Chronic n... ORPHA:811
Trisomy 13
Cystic hygroma, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aplasi... ORPHA:3378
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the ureter, Pancreatic hypoplasia, Abnorm... ORPHA:1666
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Microcephaly ORPHA:1131
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308700
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Long penis, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemi... ORPHA:769
Oculocerebrocutaneous Syndrome
Microphthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Anophthalmia OMIM:164180
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Infertility, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Cushing Disease
Premature ovarian insufficiency, Infertility, Truncal obesity, Menorrhagia, Metrorrhagia, Failure... ORPHA:96253
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Renal hypoplasia, Hypothyroidism, Lymphopenia, Unilateral ren... OMIM:616541
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Hypogly... OMIM:617053
Placental Insufficiency
Spontaneous abortion, Small for gestational age, Insulin resistance ORPHA:439167
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Anteri... ORPHA:2255
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Leprechaunism
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Enlarged kidney, Enlarged ovaries, Insulin re... ORPHA:508
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Failure to thrive, Splenom... OMIM:613327
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Bifid scrotum, Premature pubarche, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Anophthalmia ORPHA:411986
Prader-Willi Syndrome
Cryptorchidism, Infertility, Hyperinsulinemia, Oligomenorrhea, Scrotal hypoplasia, Failure to thr... OMIM:176270
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Whipple Disease
Insulin resistance, Erectile dysfunction, Hypothyroidism, Hepatomegaly, Cachexia, Anemia, Splenom... ORPHA:3452
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Hypoplasia of the fallopian tube, Abnormal spermatogenesis, Str... ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Hepatic stea... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Hepatic stea... OMIM:269700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, ... ORPHA:280365
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thro... OMIM:222300
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Pancreatic aplasia, Small for g... ORPHA:556955
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, H... ORPHA:71212
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hypoinsuline... ORPHA:2126
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-... ORPHA:403
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, P... ORPHA:435651
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitu... OMIM:151660
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Anophthal... OMIM:164210
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Ventricular septal defect, Hypoplasia of the corpus callosum, Patent duct... OMIM:206900
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Biliary atresia, Ureteral duplication, Glycosuria, Pancreatic hypoplasia, Failure ... OMIM:600001
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Walker-Warburg Syndrome
Pachygyria, Absent septum pellucidum, Polymicrogyria, Abnormal cortical gyration, Macrogyria, Mic... ORPHA:899
Werner Syndrome
Slender build, Ovarian neoplasm, Insulin resistance, Abnormal testis morphology, Decreased fertil... ORPHA:902
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Ventricular sep... ORPHA:2162
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Branchial cyst ORPHA:435938
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Hyperinsulinemia, Insulin resistance, Nocturia, Hypoglycemia, Retrogra... ORPHA:230
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453499
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Fasting hypoglycemia, Horseshoe kidney, Insulin resistance, Premature adrenarche,... ORPHA:96182
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalmia, Agenesis of... ORPHA:2189
Trisomy 1Q
Cystic hygroma, Ventricular septal defect, Patent ductus arteriosus, Anophthalmia, Agenesis of co... ORPHA:261344
Gitelman Syndrome
Nocturia, Primary hyperaldosteronism, Delayed puberty, Type II diabetes mellitus, Parathyroid ade... ORPHA:358
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Neonatal hypoglycemia, Enlarged kidney, Gonadoblastoma, Hep... OMIM:130650
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Short Syndrome
Diabetes mellitus, Weight loss, Insulin resistance ORPHA:3163
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Spontan... ORPHA:96181
Fibular Hemimelia
Spina bifida, Anophthalmia, Abnormal heart morphology ORPHA:93323
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Cockayne Syndrome Type 2
Subcortical white matter calcifications, Delayed eruption of primary teeth, Anophthalmia, Intraut... ORPHA:90322
Monosomy 13Q34
Obesity, Hepatic steatosis, Metrorrhagia, Insulin resistance ORPHA:96168
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Hypercalciuria, Adrenal hyperplasia, Glucocortocoid-insensitive prima... ORPHA:251274
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Anophthalmia, Agenesis of co... ORPHA:77298
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... OMIM:601186
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Tricuspid valve prolapse, Umbilical hernia, Anophthalmia ORPHA:1101
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3412
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Panc... ORPHA:83617
Branchiootorenal Syndrome 1
Branchial fistula, Abnormal cerebral morphology, Facial palsy, Branchial cyst OMIM:113650
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestational age, Anemi... ORPHA:699
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Secundum atrial septal... OMIM:156810
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Microcephaly, Anterior hypopituitarism, Decreased response to growt... OMIM:147250
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Bloom Syndrome
Recurrent tonsillitis, Azoospermia, Insulin resistance, Oligospermia, Abnormal proportion of CD8-... ORPHA:125
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis, Hyperaldosteronism ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Adrenal hyperplasia, Increased urinary potassium, Glucocortoco... ORPHA:231580
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Microcephaly, Agenesis of corpus callosum, Anophthalmia ORPHA:139471
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:352665
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cockayne Syndrome Type 1
Delayed eruption of primary teeth, Basal ganglia calcification, Absent brainstem auditory respons... ORPHA:90321
Senior-Loken Syndrome 8
Hepatic cysts, Nephronophthisis, Pancreatic cysts OMIM:616307
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Hypospadias, Ovotestis, Adrenal gland agenesis OMIM:611812
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst ORPHA:2260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Delayed p... OMIM:616263
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Atrial septal defect, Mitral valve prolapse, Ventricular septal defect... OMIM:300166
Atypical Werner Syndrome
Ovarian neoplasm, Fasting hyperinsulinemia, Abnormal testis morphology, Hyperinsulinemia, Hepatic... ORPHA:79474
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Ectopic posterior pituitary, Anophthalmia OMIM:610125
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Insulin resistance ORPHA:90153
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Endometr... ORPHA:273
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Optic disc coloboma, Branchial fistula, Webbed neck, Patent ductus art... ORPHA:261337
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Absent septum pellucidum, Arrhinencephaly, Congenital m... ORPHA:2538
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Charge Syndrome
Gonadotropin deficiency, Atrial septal defect, Ventricular septal defect, Arrhinencephaly, Webbed... OMIM:214800
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Ab... ORPHA:464329
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance ORPHA:90154
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Intrauter... ORPHA:261330
Charge Syndrome
Delayed eruption of teeth, Abnormal cranial nerve morphology, Abnormal aortic valve morphology, P... ORPHA:138
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Female infertility, D... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Female infertility, D... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Female infertility, D... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Female infertility, D... ORPHA:99226
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Fraser Syndrome 1
Abnormal heart morphology, Bilateral microphthalmos, Abnormal cortical gyration, Anophthalmia, Mi... OMIM:219000
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pheochromocytoma, Pancreatic cysts, Polycythemia, Epididymal cyst, Paragang... OMIM:193300
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris... ORPHA:564
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Multicystic kidney dysplasia, Stage 5 chronic k... OMIM:267010
Aceruloplasminemia
Hypochromic microcytic anemia, Abnormal pancreas morphology, Refractory anemia, Elevated hepatic ... ORPHA:48818
Microphthalmia With Linear Skin Defects Syndrome
Mitral valve prolapse, Absent septum pellucidum, Microphthalmia, Tricuspid valve prolapse, Anopht... ORPHA:2556
Focal Dermal Hypoplasia
Delayed eruption of teeth, Aniridia, Anophthalmia, Umbilical hernia, Microphthalmia, Spina bifida... OMIM:305600
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Adrenocortical c... ORPHA:116
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Holoprosencephaly 9
Panhypopituitarism, Anterior pituitary agenesis, Decreased response to growth hormone stimuation ... OMIM:610829
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, A... OMIM:273395
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Microphthalmia, Anophth... ORPHA:2250
Branchiooculofacial Syndrome
Low posterior hairline, Branchial anomaly, Facial palsy, Microphthalmia, Anophthalmia, Intrauteri... OMIM:113620
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Microphthalmia ORPHA:861
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Multicystic kidney dysplasia, Hepatomegaly, Abnormality o... ORPHA:1318
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal corticomedullary cysts, Stage 5 c... OMIM:613159
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland... ORPHA:449432
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia, Microcephaly, Optic atrophy ORPHA:2526
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia, Agenesis of corpus callosum, Anterior pituitary hypoplasia ORPHA:264200
Fraser Syndrome
Umbilical hernia, Microphthalmia, Anophthalmia, Microcephaly, Myelomeningocele ORPHA:2052
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Hepat... OMIM:617941
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Anophthalmia OMIM:605627
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Horseshoe kidney, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia,... OMIM:227646
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricosuria, Testicular atrophy, Nephrolithiasis OMIM:300322
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Biliary atresia, Unilateral cryptorchidism, Failure to thri... ORPHA:96149
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Jaundice, Hypersplenism, Renal insufficiency, Enlarged kidney, Periportal fi... ORPHA:731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Hydronephro... OMIM:236680
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Multiple renal cysts, Pancreatic cysts, Polycythemia, Epididymal cyst... ORPHA:892
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Anophthalmia OMIM:615636
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Failure to thrive, Pancreatic fibrosis OMIM:615503
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Weight los... ORPHA:740
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Branchial cyst, Abnormal heart morphology, Hypoplasia of the corpus callosum,... ORPHA:508488
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Chro... OMIM:208500
Leukocyte Adhesion Deficiency
Peritonitis, Recurrent tonsillitis, Thrombocytosis, Hyperinsulinemic hypoglycemia, Leukocytosis, ... ORPHA:2968
Pmm2-Cdg
Multiple renal cysts, Elevated circulating growth hormone concentration, Aplasia of the ovary, Hy... ORPHA:79318
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Hydronephrosis, Annular pancreas ORPHA:210122
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Microphthalmia With Limb Anomalies
Arrhinencephaly, Optic atrophy, True anophthalmia, Microphthalmia ORPHA:1106
Microphthalmia, Syndromic 6
Aplasia/Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral co... OMIM:607932
Doors Syndrome
Ambiguous genitalia, Thrombocytosis, Congenital hypothyroidism, Hydronephrosis, Increased urine a... ORPHA:79500
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Ectopic kidney, Hypospadias ORPHA:3063
Microphthalmia, Syndromic 1
Webbed neck, Aganglionic megacolon, Bicuspid aortic valve, Microphthalmia, Anophthalmia, Microcep... OMIM:309800
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 2nd finger, Toe syndactyly, Radioulnar synostosi... 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

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