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Gene: Cartpt MGI:1351330

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Gene Summary

Name:
CART prepropeptide
Synonyms:
Cart

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Cartptem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cartptem1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Cartptem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Cartptem1(IMPC)Mbp HOM Early adult 1.97×10-05
small heart Cartptem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Cartptem1(IMPC)Mbp HOM   Early adult 1.96×10-06
enhanced contextual conditioning behavior Cartptem1(IMPC)Mbp HOM Early adult 6.06×10-06
abnormal heart morphology Cartptem1(IMPC)Mbp HOM Early adult 0.00
cataract Cartptem1(IMPC)Mbp HOM   Early adult 1.92×10-06
increased startle reflex Cartptem1(IMPC)Mbp HOM Early adult 2.37×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity
Increased waist to hip ratio, Obesity OMIM:601665

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Osteoporosis
Osteoporosis OMIM:166710
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Tetralo... ORPHA:250994
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Cataract, Irritability, Limb tremor OMIM:616647
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macul... OMIM:204200
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Tall stature ORPHA:2849
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia ORPHA:329314
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Cataract, Optic atrophy OMIM:620312
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Pancreatic islet-cel... OMIM:246200
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Tetralogy of Fallot, ... ORPHA:1381
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Summitt Syndrome
Obesity OMIM:272350
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Hem... ORPHA:1473
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Cataract, Intestinal pseudo-obstruction, Macular degeneration, Dysphagia, Men... OMIM:619780
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Cln3 Disease
Cataract, Optic atrophy, Depression, Pigmentary retinopathy, Dementia, Urinary bladder sphincter ... ORPHA:228346
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Cleft palate ORPHA:90654
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Pellagra-Like Syndrome
Cataract, Confusion OMIM:260650
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... ORPHA:92050
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Classic Phenylketonuria
Cataract, Tremor, Depression, Attention deficit hyperactivity disorder, Mental deterioration, Mem... ORPHA:79254
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Atrial septal defect, Patent foramen ovale, Hydro... OMIM:620327
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... OMIM:616222
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Tremor, Optic atrophy, Cardiomyopathy, Pigmentary reti... OMIM:222300
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Hyperekplexia 2
Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Failure to thrive, Hepatic stea... OMIM:613327
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Tremor, Depression, Hematochezia, Pigmentary retinopathy, Mental deterioration, Memory ... ORPHA:79095
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Insulin... OMIM:269700
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst, Abnormal hea... ORPHA:488618
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity, Confusion, Oligosacchariduria, Depression, Macroglo... ORPHA:309288
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Macroglossia, Dysphagia, Mental deterioration, Achalasia ORPHA:79107
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Cleft palate, Pseudobulbar paral... OMIM:607371
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy... OMIM:253800
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Confusion, Depression, Irritability, Conjunctivitis, Laryngeal... ORPHA:36913
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Sandhoff Disease
Exaggerated startle response, Urinary incontinence, Cardiomegaly, Progressive psychomotor deterio... OMIM:268800
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I... ORPHA:508
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Irritability, Cataract OMIM:146200
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Stromme Syndrome
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal malrotation, Bilatera... OMIM:243605
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cataract, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Depression, Cognitive impairment... ORPHA:70595
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Hypospadias, Cleft palate, M... OMIM:309801
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Cirrhosis, A... ORPHA:905
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Depression, Astigmatism, Cog... ORPHA:886
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Urinary incontinence, Optic atrophy, Depression, Head tremor, Mental de... ORPHA:314404
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability, Optic nerve hypoplasia OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux, Depression OMIM:620114
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonary stenosis, ... OMIM:620185
Agel Amyloidosis
Deficit in phonologic short-term memory, Tongue atrophy, Cataract, Proteinuria, Xerostomia, Stage... ORPHA:85448
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis ORPHA:412
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Optic atrophy OMIM:616881
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Splenomegaly, Hepatocellular adenoma, Cholestasis, Increased body wei... ORPHA:264580
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Optic atrophy, Dysphagia, Depression,... ORPHA:845
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... ORPHA:93932
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentratio... ORPHA:79474
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Ketotic hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hepatocellular adenom... ORPHA:79240
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Knobloch Syndrome
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Macular degeneratio... ORPHA:1571
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Microcornea, Lentiglobus, Gastroesophageal reflux, Retinal ... ORPHA:90324
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... ORPHA:2714
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft, Gastroesophageal reflux OMIM:608800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... ORPHA:91
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ren... ORPHA:90291
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight OMIM:182290
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, High palate, Dystonia ORPHA:438216
Sotos Syndrome
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Xerostomia, In... ORPHA:398069
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse ORPHA:309155
Legius Syndrome
Short attention span, Cataract, Dystonia, Nephrolithiasis, Desmoid tumors, Mitral valve prolapse,... ORPHA:137605
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, High palate, Cognitive impairment, Dysphagia OMIM:617527
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, High palate, Truncal titubation OMIM:618056
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan excretion, ... ORPHA:79255
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Posterior subcapsular cataract, Dysphagia, Memory impair... ORPHA:637
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Gastroesophageal reflux OMIM:615574
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Microphthalmia, Syndromic 2
Retinal detachment, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular sys... OMIM:300166
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Short uvula, Lens coloboma, ... OMIM:619539
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Malabsorption, Bicarbonaturia, Bicarbonate-wasting... ORPHA:47159
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, High palate, Dystonia, Impaired oropharyngeal swallo... ORPHA:521426
Liver Disease, Severe Congenital
Hepatomegaly, Failure to thrive, Biliary hyperplasia, Abnormal circulating thyroid hormone concen... OMIM:619991
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Ventricular septal defect, Urinary incontinence... OMIM:619522
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate OMIM:603671
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Follicular thyroid carcino... ORPHA:1359
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis ORPHA:109
Holoprosencephaly 2
Median cleft lip and palate, Remnants of the hyaloid vascular system, Submucous cleft hard palate... OMIM:157170
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Hellp Syndrome
Increased body weight ORPHA:244242
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968

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 Cartpt

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 Cartpt.

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

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MGI Allele Allele Type Produced
Cartpttm96437(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cartptem1(IMPC)Mbp Whole-gene deletion Mice

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