Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type V, alpha 3
Synonyms:
Pro-alpha3(V)

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Col5a3 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 Col5a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Hypertrichosis, Cholestasis, Hy... OMIM:246200
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Lipoat... OMIM:613877
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight lo... ORPHA:100083
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Diabetes mellitus, Abno... ORPHA:90003
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Lipodystrophy, Loss of ... OMIM:615381
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hirsutism, Enlarged ... ORPHA:90301
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin, Obesity OMIM:617885
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Premat... ORPHA:280365
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... ORPHA:317
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... ORPHA:456312
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc... ORPHA:2088
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... OMIM:175700
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... ORPHA:2457
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Low anterior hairline, Low pos... ORPHA:73272
Pulmonary Blastoma
Weight loss ORPHA:64741
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Increased adipose tissue around the neck, Insulin-resistant diabetes... OMIM:248370
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Short Syndrome
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... ORPHA:3163
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... OMIM:610199
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Weight loss, Splenomegaly ORPHA:86893
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ... ORPHA:65682
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Reduced subcutaneo... ORPHA:1979
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... ORPHA:1133
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Hirsuti... OMIM:613327
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadi... ORPHA:902
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Diabetes mellitus, Abnormality of endocrine pancreas physiology, Congenital hepatic... ORPHA:79230
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Alstrom Syndrome
Alopecia, Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation t... OMIM:203800
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Failure to thrive, Hyperglycemia, Absent gal... OMIM:600001
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Eunuchoid habitus, Cry... ORPHA:91
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal sp... ORPHA:2470
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Reduced subc... OMIM:227810
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Idiopathic Achalasia
Weight loss ORPHA:930
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Cole Disease
Abnormal hair morphology, Hyperglycemia OMIM:615522
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Whipple Disease
Insulin resistance, Splenomegaly, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis, Decreased body weight ORPHA:1672
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Monosomy 13Q34
Insulin resistance, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... ORPHA:2047
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Failure to thrive, Glucose intol... OMIM:606721
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Cryptorchidism, Hypothyroidism, Truncal obesity, Sparse hair... OMIM:616541
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
Pseudomyxoma Peritonei
Hernia, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Retroperitoneal fibrosis, Pancreatic hypoplasia, Camptodactyly of finge... OMIM:602782
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... ORPHA:97282
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Small for gestational age, Panc... ORPHA:556955
Follicular Lymphoma
Weight loss, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Abnormali... OMIM:209900
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Failure to thrive, Decreased respon... ORPHA:96182
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair, Cachexia ORPHA:2574
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Renpenning Syndrome
Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Decreased testicular size, Cachexia, Diabe... ORPHA:3242
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati... ORPHA:93111
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomegaly, Ovarian... ORPHA:83469
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic steatosis, Distal arthrogryposis, Cachexia, Hepatomegaly ORPHA:42
Huntington Disease-Like 2
Weight loss ORPHA:98934
Poems Syndrome
Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukonychia, Primary... ORPHA:2905
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Hepatitis, Adrenocorti... ORPHA:199299
Tenorio Syndrome
Hypoinsulinemia, Thick eyebrow, Hypoglycemia, Hypertrichosis OMIM:616260
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,... ORPHA:79102
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Diabetes insipid... OMIM:618500
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Failure to thrive, Hypopituitarism, Decreased response to growth hormone s... ORPHA:811
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thriv... ORPHA:358
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hernia, Weight loss, Hepatomegaly, Patent ductus arteriosus ORPHA:1842
Chronic Hiccup
Weight loss ORPHA:396
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormal testis morphology, Abnormality of the pancreas, Liver abscess ORPHA:54251
Classic Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Weight loss, Splenomegaly ORPHA:391
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy... ORPHA:90154
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Dend Syndrome
Hyperglycemia ORPHA:79134
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Flex... ORPHA:90153
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Hyperglycemia, Long... ORPHA:444077
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Glucocortocoid-in... ORPHA:171876
Reticular Dysgenesis
Weight loss, Aplasia/Hypoplasia of the thymus, Failure to thrive ORPHA:33355
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Cirrhosis, Weight loss, Macrovesicular hepatic steatosis... ORPHA:298
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... ORPHA:400
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomegaly ORPHA:75233
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Androgen insufficiency, Adren... ORPHA:85138
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Weight loss, Splenomegaly ORPHA:33577
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Splenomegaly, Dystrophic fingernails, Patchy alop... ORPHA:2930
Bloom Syndrome
Insulin resistance, Sparse eyelashes, Adipose tissue loss, Patchy alopecia, Abdominal obesity, Di... ORPHA:125
Central Diabetes Insipidus
Diabetes insipidus, Weight loss, Failure to thrive ORPHA:178029
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of h... ORPHA:2221
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive OMIM:143880
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis ORPHA:188
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Weight loss, Nonketotic hypoglycemia, ... ORPHA:20
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Ja... OMIM:619991
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Immunodeficiency 27A
Hepatosplenomegaly, Weight loss, Splenomegaly OMIM:209950
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Scorpion Envenomation
Hyperglycemia, Hyperhidrosis, Acute pancreatitis, Glycosuria ORPHA:466677
Huntington Disease-Like 2
Weight loss OMIM:606438
Mcdonough Syndrome
Cachexia, Cryptorchidism, Synophrys ORPHA:2471
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss ORPHA:677
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Low anter... OMIM:220111
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Primary Sclerosing Cholangitis
Hepatic fibrosis, Type I diabetes mellitus, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenom... ORPHA:171
Hirschsprung Disease
Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss ORPHA:388
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Leishmaniasis
Hepatomegaly, Weight loss, Splenomegaly ORPHA:507
Celiac Disease, Susceptibility To, 1
Alopecia, Type I diabetes mellitus, Failure to thrive, Weight loss, Delayed puberty, Enamel hypop... OMIM:212750
Budd-Chiari Syndrome
Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega... ORPHA:131
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Hepatitis, Failure to thrive, Weight loss ORPHA:47
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Weight loss ORPHA:95427
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:370348
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Hepa... ORPHA:100080
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Frontal balding, Weight loss, Neonatal hypoglycemia, Abnormal circulating d... ORPHA:90794
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Majeed Syndrome
Failure to thrive, Splenomegaly, Cachexia, Weight loss, Hepatomegaly, Flexion contracture ORPHA:77297
Non-Functioning Paraganglioma
Weight loss, Paraganglioma, Episodic hyperhidrosis, Paraganglioma of head and neck ORPHA:94080
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Impaired ... ORPHA:110
Parathyroid Carcinoma
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea... ORPHA:143
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Hepatic cysts, Intermittent jaundice, Biliary... ORPHA:100085
Juvenile Huntington Disease
Weight loss ORPHA:248111
Immunodeficiency 31C
Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly, Diabetes mellitus OMIM:614162
Familial Colorectal Cancer Type X
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Weight loss, Flexion... ORPHA:440437
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Abnormal sp... ORPHA:284
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:3226
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, ... OMIM:619487
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Failure to thrive, Contracture of the distal ... ORPHA:83617
Tetrasomy 12P
Cachexia, Sparse eyebrow, Sparse hair, Hypohidrosis ORPHA:884
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Takayasu Arteritis
Weight loss, Hyperhidrosis ORPHA:3287
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Hepa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Hepa... ORPHA:100082
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Steinert Myotonic Dystrophy
Insulin resistance, Alopecia, Male hypogonadism, Cholelithiasis, Decreased response to growth hor... ORPHA:273
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Increased circulating cortisol level, Increased urinary cortisol level, Adrena... ORPHA:99889
Christianson Syndrome
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita ORPHA:85278
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Cystinosis, Nephropathic
Male hypogonadism, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Failure to t... OMIM:219800
Felty Syndrome
Cellulitis, Hepatomegaly, Weight loss, Splenomegaly ORPHA:47612
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Gm1 Gangliosidosis
Failure to thrive, Camptodactyly of finger, Hepatosplenomegaly, Inguinal hernia, Splenomegaly, Hi... ORPHA:354
Focal Myositis
Weight loss ORPHA:48918
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Weight loss, Portal hypertension, Hypersplenism ORPHA:98850
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Biliary tr... ORPHA:100086
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Nail dystrophy, Sple... ORPHA:37042
Perry Syndrome
Weight loss ORPHA:178509
Congenital Tufting Enteropathy
Cholestatic liver disease, Weight loss, Failure to thrive ORPHA:92050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Hip contracture OMIM:616801
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Cachexia, Hepatomegaly ORPHA:824
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, ... ORPHA:100075
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Abnor... ORPHA:85293
Polymyositis
Hepatomegaly, Chondrocalcinosis, Weight loss ORPHA:732
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... ORPHA:740
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... ORPHA:276621
Huntington Disease-Like 1
Weight loss ORPHA:157941
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Yao Syndrome
Weight loss, Xerostomia OMIM:617321
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Sparse or absent eyel... ORPHA:217346
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Lipoma, Neoplasm of the adrenal... ORPHA:109
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Failure to thrive, Abnormality of connective tissue ORPHA:79128
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Hepatitis, Thyroiditis ORPHA:139402
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Weight loss, Patent ductus arteriosus ORPHA:251071
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... ORPHA:29072
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Hepa... OMIM:130650
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Refractory Celiac Disease
Abnormal spleen physiology, Weight loss ORPHA:398063
Microsporidiosis
Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Biliary tract abnorma... ORPHA:2552
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Flexion contracture, Cachexia, Arthrogryposis multiplex congenita OMIM:618186
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Hepatosplenomegaly, Weight loss, Abnormal testis morphology, Hepatomegaly, Primary ... ORPHA:85450
Chronic Beryllium Disease
Weight loss ORPHA:133
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Splenomegaly, Hypothyroidism, Weight loss, Hepatomegaly OMIM:613673
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... ORPHA:371364
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss ORPHA:79242
Osteosarcoma
Weight loss ORPHA:668
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Xerostomia, Nail dystrophy OMIM:175500
Primary Intestinal Lymphangiectasia
Weight loss, Peritoneal effusion ORPHA:90362
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, H... ORPHA:64
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Salivary gland neopl... ORPHA:144
Liposarcoma
Weight loss ORPHA:69078
Al Amyloidosis
Xerostomia, Abnormality of the liver, Weight loss, Hepatomegaly, Abnormal salivary gland morphology ORPHA:85443
Rat-Bite Fever
Weight loss, Pancreatitis, Parotitis ORPHA:31205
Adult-Onset Still Disease
Hepatomegaly, Splenomegaly, Weight loss, Hepatitis ORPHA:829
Cap Polyposis
Weight loss ORPHA:160148
Familial Thrombocytosis
Hyperhidrosis, Weight loss, Splenomegaly ORPHA:71493
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Primary adrenal i... ORPHA:275761
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Giant Cell Arteritis
Alopecia, Diabetes insipidus, Weight loss, Hyperhidrosis ORPHA:397
Stevens-Johnson Syndrome
Weight loss, Pancreatitis ORPHA:36426
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Polyarteritis Nodosa
Weight loss ORPHA:767
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Toxic Epidermal Necrolysis
Weight loss, Pancreatitis ORPHA:537
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Liver abscess ORPHA:67
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Polycythemia Vera
Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomegaly ORPHA:729
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss, Alopecia of scalp ORPHA:704
Q Fever
Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Cholecystitis, Splenomegaly, Weight loss... ORPHA:781
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Weight loss, Hyperhidrosis, Diabetes insipidus, Retroperitoneal fi... ORPHA:35687
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:79318
Ileal Neuroendocrine Tumor
Increased serum serotonin, Small intestine carcinoid, Weight loss, Extrahepatic cholestasis ORPHA:100078
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Perry Syndrome
Weight loss OMIM:168605
Mucolipidosis Type Ii
Dry hair, White hair, Umbilical hernia, Fine hair, Hepatosplenomegaly, Inguinal hernia, Hip contr... ORPHA:576
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Loeffler Endocarditis
Weight loss ORPHA:75566
Oromandibular Dystonia
Weight loss ORPHA:93958
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98849
Igg4-Related Kidney Disease
Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing cholangitis, Prostatitis, ... ORPHA:449395
Neuroblastoma
Elevated circulating catecholamine level, Weight loss ORPHA:635
Igg4-Related Aortitis
Weight loss ORPHA:449400
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Xfe Progeroid Syndrome
Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypoplasia OMIM:610965
Granulomatosis With Polyangiitis
Prostatitis, Weight loss, Pancreatitis, Diabetes insipidus, Abnormality of the hypothalamus-pitui... ORPHA:900
Amyotrophic Lateral Sclerosis
Cachexia, Xerostomia ORPHA:803
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Rheumatoid Arthritis
Weight loss OMIM:180300
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Weight loss, Failure to thrive ORPHA:37
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Ménétrier Disease
Weight loss ORPHA:2494
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Cryptorchidism OMIM:301310
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Simple Cryoglobulinemia
Weight loss, Viral hepatitis ORPHA:91139
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Aicardi-Goutieres Syndrome 7
Hepatitis, Splenomegaly, Hepatic steatosis, Hypothyroidism, Weight loss, Hepatomegaly OMIM:615846
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss, Hydrocele testis ORPHA:49041
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis ORPHA:52417
Cockayne Syndrome
Dry hair, Congenital contracture, Contractures of the large joints, Fine hair, Absence of puberta... ORPHA:191
Castleman Disease
Jaundice, Weight loss ORPHA:160
Pneumocystosis
Weight loss ORPHA:723
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Hepatosplenomegaly, Weight loss, Enthesitis ORPHA:85408
Primary Fanconi Renotubular Syndrome
Weight loss, Glycosuria, Hypoglycemia ORPHA:3337
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Imerslund-Gräsbeck Syndrome
Weight loss, Failure to thrive ORPHA:35858
Behçet Disease
Weight loss, Pancreatitis, Splenomegaly, Orchitis ORPHA:117
Nocardiosis
Cellulitis, Peritonitis, Abnormality of the adrenal glands, Weight loss, Thyroiditis, Liver abscess ORPHA:31204
Brucellosis
Failure to thrive, Hypersplenism, Abnormality of the liver, Splenomegaly, Orchitis, Weight loss, ... ORPHA:1304
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Fanconi Anemia
Umbilical hernia, Hypogonadism, Abnormality of the liver, Cryptorchidism, Patent ductus arteriosu... ORPHA:84
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Umbilical hernia, Abnormal eyebrow morphology, Decreased testicular... ORPHA:800
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Camurati-Engelmann Disease
Hypogonadism, Slender build, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Cachexi... ORPHA:1328
Multiple Myeloma
Weight loss, Splenomegaly ORPHA:29073
Rett Syndrome
Cachexia OMIM:312750
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Cachexia, Ompha... ORPHA:3380
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Long eyelashes, Weight loss, Hypopigmentation of hair ORPHA:79430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss, Testicular microlithiasis ORPHA:60025
Sarcoidosis
Alopecia, Enlarged lacrimal glands, Parotitis, Portal hypertension, Enlargement of parotid gland,... ORPHA:797
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture... ORPHA:2020
African Trypanosomiasis
Alopecia, Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Abnormalit... ORPHA:3385
Juvenile Polyposis Of Infancy
Cachexia, Patent ductus arteriosus, Subcutaneous lipoma ORPHA:79076
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Splenomegaly, Weight loss, Hepatomegaly, Abnormal salivary gland morpho... OMIM:181000
Kikuchi-Fujimoto Disease
Alopecia, Enlargement of parotid gland, Splenomegaly, Weight loss, Hepatomegaly ORPHA:50918
Postinfectious Vasculitis
Weight loss, Orchitis, Viral hepatitis ORPHA:48435
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia, Sparse scalp hair ORPHA:808
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Ca... ORPHA:2072
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland ORPHA:1969
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Reactive Arthritis
Dystrophic fingernails, Weight loss, Enthesitis ORPHA:29207
Norrie Disease
Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Diabetes mellitus ORPHA:649
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Riddle Syndrome
Weight loss ORPHA:420741
Chronic Graft Versus Host Disease
Alopecia, Xerostomia, Fasciitis, Nail dystrophy, Weight loss, Flexion contracture ORPHA:99921
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Neoplasm of the thymus, Splenomegaly, Abno... ORPHA:744
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Weight loss, Hepatitis OMIM:619381
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Nijmegen Breakage Syndrome
Abnormal hair morphology, Cachexia, Abnormal hair quantity, Low anterior hairline ORPHA:647
Choreoacanthocytosis
Hepatomegaly, Weight loss, Splenomegaly ORPHA:2388
Dermatomyositis
Cellulitis, Alopecia, Chondrocalcinosis, Weight loss, Abnormal hair quantity ORPHA:221
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Systemic Lupus Erythematosus
Alopecia, Weight loss ORPHA:536
Marfan Syndrome
Slender build, Cachexia, Inguinal hernia ORPHA:558
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly ORPHA:75565
Stickler Syndrome
Abnormal dental enamel morphology, Slender build, Cachexia ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

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 Col5a3

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 Col5a3.

No publications found that use IMPC mice or data for Col5a3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Col5a3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col5a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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