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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... ORPHA:79084
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Hepatic steatosis, Abdominal obesity, Diabetes mellitus OMIM:615980
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Growth Hormone Insensitivity Syndrome
Fine hair, Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failu... ORPHA:181393
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant dia... OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Insulin-resistant ... OMIM:262190
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus, Obesity, Insulin resistance OMIM:615703
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Donohue Syndrome
Fasting hypoglycemia, Hypertrichosis, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Preco... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... OMIM:612526
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Generalized hirsutism, Insulin resistance ORPHA:79087
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Microvesicular hepatic steatosis, Hirsutism, Hypoglycemia, Low anterior ha... OMIM:220111
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Hirsutism, Loss of subcutaneous adipose tissue in ... OMIM:151660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Polycystic ... ORPHA:79085
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant... ORPHA:435660
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... ORPHA:99885
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Po... ORPHA:2348
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Diabetes mellitus, Bili... ORPHA:90003
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... OMIM:608612
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... ORPHA:465508
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Polycystic ovaries, Pancreatitis, S... ORPHA:90970
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... ORPHA:71529
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated ... ORPHA:90301
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Polycystic o... ORPHA:79086
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Crypt... OMIM:175700
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... ORPHA:280365
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:248370
Erythrokeratodermia Variabilis
Abnormal hair morphology, Weight loss, Alopecia, Abnormal testis morphology, Diabetes mellitus, G... ORPHA:317
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Low anterior hairline, Insulin resistance, Small for gestational age, Failure to th... ORPHA:73272
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age, Peritonitis ORPHA:391673
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, ... ORPHA:456312
Pulmonary Blastoma
Weight loss ORPHA:64741
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Hypertrichosis, Low anterior... ORPHA:769
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Short Syndrome
Insulin resistance, Weight loss, Alopecia, Abnormal dental enamel morphology, Lipodystrophy, Diab... ORPHA:3163
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P... OMIM:610199
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Weight loss, Splenomegaly ORPHA:79238
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hirsutism, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepa... OMIM:613327
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Precocious pube... ORPHA:813
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, ... ORPHA:435651
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly ORPHA:86893
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Lipodystrophy, Reduced subcutaneous adipose tiss... ORPHA:1979
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism, Inguinal hernia, Fe... ORPHA:2849
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... ORPHA:3085
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... ORPHA:791
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Beta-Ketothiolase Deficiency
Hyperglycemia, Hepatomegaly, Weight loss, Hypoglycemia ORPHA:134
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Hemochromatosis Type 2
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Aredyld Syndrome
Hepatomegaly, Cachexia, Type II diabetes mellitus, Abnormal dental enamel morphology, Splenomegal... ORPHA:1133
Tuberculosis
Weight loss ORPHA:3389
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pre... ORPHA:79237
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly ORPHA:98293
Familial Pancreatic Carcinoma
Peritoneal abscess, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosplenome... ORPHA:1333
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypertrichosis, Insulin resistance, F... ORPHA:508
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic hernia, Failure to... ORPHA:2470
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... OMIM:600001
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hirsutism, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypog... OMIM:209900
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Isaac Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Isolated Sedoheptulokinase Deficiency
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Cholestasis, Flexion co... ORPHA:440713
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Insulin resist... ORPHA:902
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Failure to thrive, Diabetes mellitus, Type I diabetes mellitus, Pancre... OMIM:557000
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital hypothyroidism, Pancreatic hypoplasia, Small for gestational age, Failure to thrive, C... ORPHA:2255
Whipple Disease
Hepatomegaly, Cachexia, Insulin resistance, Splenomegaly, Hypothyroidism ORPHA:3452
Graves Disease, Susceptibility To, 1
Weight loss, Graves disease, Hyperhidrosis, Goiter OMIM:275000
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Weight los... ORPHA:97289
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Monosomy 13Q34
Hepatic steatosis, Obesity, Horizontal eyebrow, Insulin resistance ORPHA:96168
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Hyperhidrosis ORPHA:1672
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Vipoma
Adrenocortical adenoma, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level... ORPHA:97282
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Alopecia, Primary adrenal insufficiency, Abnormality of the ... ORPHA:2047
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Truncal obesity, Diabetes mellitus, Hypothyroidism, Cryptorchidism, Sparse ha... OMIM:616541
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis OMIM:602579
Somatostatinoma
Adrenocortical adenoma, Hepatomegaly, Gallbladder dysfunction, Increased circulating cortisol lev... ORPHA:97283
Idiopathic Achalasia
Weight loss ORPHA:930
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyroid carcinoma, P... ORPHA:1332
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Alopecia of scalp, Flexion contracture of toe, Pancreatic hypoplasia, Hypergonadotr... OMIM:602782
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... OMIM:137920
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Atypical Werner Syndrome
Ovarian neoplasm, Abnormal hair morphology, Insulin-resistant diabetes mellitus, Fasting hyperins... ORPHA:79474
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Jaundice, Neuroendocr... ORPHA:913
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... ORPHA:79319
Pseudomyxoma Peritonei
Weight loss, Abnormality of the peritoneum, Hernia ORPHA:26790
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... OMIM:233805
Moynahan Syndrome
Hypogonadism, Cachexia, Alopecia, Sparse hair ORPHA:2574
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... ORPHA:96182
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Abse... ORPHA:556955
Renpenning Syndrome
Cachexia, Thin eyebrow, Alopecia, Diabetes mellitus, Decreased testicular size, Abnormal hair lab... ORPHA:3242
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Hepatitis, Decreased circulatin... ORPHA:199299
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Cachexia, Weight loss, Neoplasm of the pancreas, Abnormality of t... ORPHA:83469
Huntington Disease-Like 2
Weight loss ORPHA:98934
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Insulin resistance ORPHA:199276
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hyperthyroidism, Goiter OMIM:613239
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hepatomegaly, Hypoglycemia, Hepatic steatosis ORPHA:42
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... ORPHA:79102
Tenorio Syndrome
Hypertrichosis, Hypoinsulinemia, Hypoglycemia, Thick eyebrow OMIM:616260
Poems Syndrome
Hypertrichosis, Weight loss, Abnormality of the endocrine system, Lipodystrophy, Primary adrenal ... ORPHA:2905
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia, Failure to thrive ORPHA:3008
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hypopituitarism, Exocr... ORPHA:811
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... ORPHA:358
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Glucagonoma
Adrenocortical adenoma, Hepatomegaly, Increased circulating cortisol level, Weight loss, Neoplasm... ORPHA:97280
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Weight loss, Hernia, Patent ductus arteriosus ORPHA:1842
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Insulin resistance, Nail dystrophy, Alopecia, Generalized lipodystrophy... ORPHA:90154
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal testis morphology, Weight loss, Abnormality of the pancreas ORPHA:54251
Ppoma
Adrenocortical adenoma, Hepatomegaly, Increased circulating cortisol level, Weight loss, Neoplasm... ORPHA:97278
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus ORPHA:261265
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hirsutism, Gluc... ORPHA:189439
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyperglycemia, Premature adrenarche, Abnormality of the hypothalamus-pitu... ORPHA:293987
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperthyroidism, Activating ... ORPHA:424
Chronic Hiccup
Weight loss ORPHA:396
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduce... OMIM:608594
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hypoglycemia... ORPHA:85138
Classic Hodgkin Lymphoma
Hepatomegaly, Weight loss, Hyperhidrosis, Splenomegaly ORPHA:391
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... ORPHA:97261
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Flexion contracture,... ORPHA:90153
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Bloom Syndrome
Sparse eyelashes, Small for gestational age, Insulin resistance, Adipose tissue loss, Abdominal o... ORPHA:125
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Abnormal circulating aldosterone, Cholelithiasis, Gluc... ORPHA:171876
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:30925
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypogonadotropic hypogonadism, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis... ORPHA:298
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hirsutism, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduce... OMIM:269700
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Insulin-resistant diabetes mellitus, ... ORPHA:2959
Rhabdoid Tumor
Weight loss, Neoplasm of the liver ORPHA:69077
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Kaposi Sarcoma
Abnormality of the liver, Abnormality of the spleen, Weight loss ORPHA:33276
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Weight ... ORPHA:400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neo... ORPHA:71212
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Hyperglycemia, Long eyelashes, Patent ductus arteriosus, Curly hair, Thick... ORPHA:444077
Reticular Dysgenesis
Failure to thrive, Weight loss, Aplasia/Hypoplasia of the thymus ORPHA:33355
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Cachexia, Splenomegaly, Adrenal calcification ORPHA:75233
Dextrocardia
Abnormality of abdominal situs, Abnormality of the spleen, Pancreatic hypoplasia ORPHA:1666
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Weight loss, Hyperthyroidism, Activating thyroid-stimulating hormone... ORPHA:99819
Thymic Carcinoma
Weight loss, Hyperhidrosis, Neoplasm of the thymus ORPHA:99868
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Sp... ORPHA:2930
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Panniculitis, Splenomegaly ORPHA:33577
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hyp... ORPHA:2221
Peritoneal Cystic Mesothelioma
Weight loss, Peritonitis ORPHA:168816
Scorpion Envenomation
Hyperglycemia, Hyperhidrosis, Acute pancreatitis, Glycosuria ORPHA:466677
Dend Syndrome
Hyperglycemia ORPHA:79134
Malignant Peritoneal Mesothelioma
Weight loss, Peritonitis ORPHA:168811
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Recurrent hypoglycemia, Acute pancr... ORPHA:20
Huntington Disease-Like 2
Weight loss OMIM:606438
Bronchial Neuroendocrine Tumor
Hepatomegaly, Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmo... ORPHA:97287
Mcdonough Syndrome
Cryptorchidism, Cachexia, Synophrys ORPHA:2471
Central Diabetes Insipidus
Failure to thrive, Weight loss, Diabetes insipidus ORPHA:178029
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Hypoglycemia, Sparse axillary ha... ORPHA:95409
Immunodeficiency 27A
Weight loss, Hepatosplenomegaly, Splenomegaly OMIM:209950
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis ORPHA:188
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis ORPHA:86884
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology ORPHA:93941
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Neoplasm of the thyroid gland ORPHA:388
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hepatitis, Alopecia, Cellulitis ORPHA:47
Nephroblastoma
Weight loss, Neoplasm of the liver ORPHA:654
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertensi... ORPHA:131
Leishmaniasis
Hepatomegaly, Weight loss, Splenomegaly ORPHA:507
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture ORPHA:157973
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... ORPHA:100080
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Neoplasm of the pancreas, Pancreatitis, Precocious puberty, Jaundice ORPHA:370348
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Pancreatoblastoma
Weight loss, Pancreatic calcification, Jaundice ORPHA:677
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Hepatomegaly, Increased serum serotonin, Biliary tract obstruction, Hepa... ORPHA:100085
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Weight loss, Primary hypothyroidism, Cholestasis ORPHA:95427
Majeed Syndrome
Hepatomegaly, Cachexia, Failure to thrive, Weight loss, Splenomegaly, Flexion contracture ORPHA:77297
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Thyroid carcinoma, Parathyroid carcinoma, Chondro... ORPHA:143
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Enamel hypoplasia, Cachexia OMIM:610965
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, Hepatosplenome... OMIM:619487
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Alopecia, Enamel hypoplasia, Thyroiditis, Type I diabetes mellitu... OMIM:212750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Coarse hair, Cholelithiasis, Biliary hype... ORPHA:83617
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Weight loss, A... ORPHA:284
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Episodic hyperhidrosis, Paraganglioma ORPHA:94080
Lynch Syndrome
Ovarian neoplasm, Hepatocellular carcinoma, Weight loss, Pancreatic adenocarcinoma, Neoplasm of t... ORPHA:144
Juvenile Huntington Disease
Weight loss ORPHA:248111
Familial Colorectal Cancer Type X
Hepatocellular carcinoma, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the pancreas, Neopl... ORPHA:440437
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:3226
Tetrasomy 12P
Sparse and thin eyebrow, Cachexia, Sparse hair, Hypohidrosis ORPHA:884
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Weight loss, Cholelithiasis, Spl... ORPHA:53035
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Takayasu Arteritis
Weight loss, Hyperhidrosis ORPHA:3287
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Early balding, Alopecia,... ORPHA:273
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... ORPHA:100082
Hepatocellular Carcinoma
Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hemobilia, Weight loss, Hepatic necrosis, ... ORPHA:88673
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Hirsutism, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Ne... ORPHA:99889
Christianson Syndrome
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita ORPHA:85278
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Biliary tract obstruction, Biliary tract neoplasm, Weight loss, Extrahep... ORPHA:100086
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... OMIM:619377
Felty Syndrome
Hepatomegaly, Cellulitis, Weight loss, Splenomegaly ORPHA:47612
Hutchinson-Gilford Progeria Syndrome
Patchy alopecia, Dystrophic fingernails, Insulin resistance, Dystrophic toenail, Absence of subcu... ORPHA:740
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Weight loss ORPHA:3165
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Gm1 Gangliosidosis
Hirsutism, Failure to thrive, Weight loss, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... ORPHA:354
Focal Myositis
Weight loss ORPHA:48918
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Delayed puberty, Decreased serum est... ORPHA:3464
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Abnormal hair pattern, Hypogonadism, Camptodactyly of finger, Hyperhidrosis, Obesity, D... ORPHA:85293
Polymyositis
Hepatomegaly, Weight loss, Chondrocalcinosis ORPHA:732
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Aggressive Systemic Mastocytosis
Weight loss, Hepatosplenomegaly, Portal hypertension, Hypersplenism ORPHA:98850
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Perry Syndrome
Weight loss ORPHA:178509
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Par... ORPHA:276621
Primary Myelofibrosis
Hepatomegaly, Cachexia, Splenomegaly, Hepatosplenomegaly, Portal hypertension ORPHA:824
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Cholestatic liver disease ORPHA:92050
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Paragan... ORPHA:100075
19Q13.11 Microdeletion Syndrome
Fine hair, Cachexia, Failure to thrive, Sparse lateral eyebrow, Sparse or absent eyelashes, Crypt... ORPHA:217346
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Nail dystrophy, Abnormality of the endocrine system, Alop... ORPHA:37042
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Hip contracture, Cachexia OMIM:616801
Lymphoid Interstitial Pneumonia
Abnormality of connective tissue, Hepatomegaly, Weight loss, Failure to thrive ORPHA:79128
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Thyroid carcinoma, Hypoglycemia, Neoplasm of the adrenal cortex, Lipoma, Hashimoto thyr... ORPHA:109
Huntington Disease-Like 1
Weight loss ORPHA:157941
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Weight loss, Patent ductus arteriosus, Obesity, Cryptorchidism ORPHA:251071
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Arthrogryposis multiplex congenita, Flexion contracture OMIM:618186
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Omphalocele, Hepatomegaly, Hepatoblastoma, N... OMIM:130650
Microsporidiosis
Adrenocortical abnormality, Cholangitis, Abnormality of the spleen, Cachexia, Peritonitis, Prosta... ORPHA:2552
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Weight loss, Thyroiditis ORPHA:139402
Osteosarcoma
Weight loss ORPHA:668
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Par... ORPHA:29072
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Refractory Celiac Disease
Weight loss, Abnormal spleen physiology ORPHA:398063
Holocarboxylase Synthetase Deficiency
Weight loss, Alopecia ORPHA:79242
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Alström Syndrome
Hirsutism, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:64
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Generalized hirsutism ORPHA:1933
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Weight loss, Hypogonadism, Abnormal testis morphology, Hepatosplenomegaly, Primary ... ORPHA:85450
Polycythemia Vera
Hepatomegaly, Weight loss, Portal hypertension, Splenomegaly ORPHA:729
Rat-Bite Fever
Weight loss, Pancreatitis, Parotitis ORPHA:31205
Liposarcoma
Weight loss ORPHA:69078
Pemphigus Vulgaris
Weight loss, Atypical scarring of skin ORPHA:704
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Nail dystrophy, Alopecia, Cachexia OMIM:175500
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Polyarteritis Nodosa
Weight loss ORPHA:767
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Liver abscess ORPHA:67
Primary Intestinal Lymphangiectasia
Weight loss, Peritoneal effusion ORPHA:90362
Cap Polyposis
Weight loss ORPHA:160148
Chronic Beryllium Disease
Weight loss ORPHA:133
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Xerostomia, Weight loss, Abnormality of the liver ORPHA:85443
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Hip contracture, Knee flexion contracture, Severe failure to thrive, Elbow flexion cont... ORPHA:371364
Familial Thrombocytosis
Weight loss, Hyperhidrosis, Splenomegaly ORPHA:71493
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Failure to thrive, Weight loss, Pri... ORPHA:275761
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Giant Cell Arteritis
Weight loss, Alopecia, Diabetes insipidus, Hyperhidrosis ORPHA:397
Ileal Neuroendocrine Tumor
Increased serum serotonin, Weight loss, Extrahepatic cholestasis, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Weight loss, Extrahepatic cholestasis, Small intestine carcinoid ORPHA:100077
Q Fever
Hepatomegaly, Weight loss, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly,... ORPHA:781
Stevens-Johnson Syndrome
Weight loss, Pancreatitis ORPHA:36426
Malignant Atrophic Papulosis
Weight loss, Peritonitis ORPHA:679
Pmm2-Cdg
Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal ... ORPHA:79318
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Toxic Epidermal Necrolysis
Weight loss, Pancreatitis ORPHA:537
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Erdheim-Chester Disease
Diabetes insipidus, Weight loss, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Hyperhi... ORPHA:35687
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98849
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Loeffler Endocarditis
Weight loss ORPHA:75566
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Abnormality of mesentery morphology, Prostatitis, Retroper... ORPHA:449395
Rheumatoid Arthritis
Weight loss OMIM:180300
Oromandibular Dystonia
Weight loss ORPHA:93958
Simple Cryoglobulinemia
Viral hepatitis, Weight loss ORPHA:91139
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Mucolipidosis Type Ii
Fine hair, Dry hair, Hip contracture, White hair, Weight loss, Inguinal hernia, Knee flexion cont... ORPHA:576
Perry Syndrome
Weight loss OMIM:168605
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss, Renal tubular epithelial necrosis, Hydrocele testis ORPHA:49041
Thymoma
Weight loss, Neoplasm of the thyroid gland ORPHA:99867
Igg4-Related Aortitis
Weight loss ORPHA:449400
Granulomatosis With Polyangiitis
Diabetes insipidus, Prostatitis, Weight loss, Abnormality of the hypothalamus-pituitary axis, Pan... ORPHA:900
Ménétrier Disease
Weight loss ORPHA:2494
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Hepatosplenomegaly, Flexion contracture, Enthesitis ORPHA:85408
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Xerostomia, Retroperitoneal fibrosis, Weight loss, Nodular go... ORPHA:79078
Acrodermatitis Enteropathica
Failure to thrive, Weight loss, Alopecia, Abnormal eyebrow morphology ORPHA:37
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99228
Monosomy X
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99226
Cockayne Syndrome
Fine hair, Hepatomegaly, Cachexia, Dry hair, Absence of pubertal development, Reduced subcutaneou... ORPHA:191
Malt Lymphoma
Weight loss, Hyperhidrosis, Abnormality of the thyroid gland ORPHA:52417
Castleman Disease
Weight loss, Jaundice ORPHA:160
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Contractures of the joints of the lower limbs, Cac... ORPHA:300605
Behçet Disease
Orchitis, Weight loss, Pancreatitis, Splenomegaly ORPHA:117
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pneumocystosis
Weight loss ORPHA:723
Brucellosis
Hepatomegaly, Small for gestational age, Failure to thrive, Weight loss, Splenomegaly, Abnormalit... ORPHA:1304
Nocardiosis
Peritonitis, Weight loss, Abnormality of the adrenal glands, Thyroiditis, Cellulitis, Liver abscess ORPHA:31204
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Fanconi Anemia
Weight loss, Abnormality of the hypothalamus-pituitary axis, Absent testis, Patent ductus arterio... ORPHA:84
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Schwartz-Jampel Syndrome
Long eyelashes in irregular rows, Cachexia, Shoulder flexion contracture, Flexion contracture of ... ORPHA:800
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Abnormal subcutaneous fat tissue distribution, Slender build, Splenomegal... ORPHA:1328
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Multiple Myeloma
Weight loss, Splenomegaly ORPHA:29073
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Rett Syndrome
Cachexia OMIM:312750
Trisomy 18
Omphalocele, Cachexia, Congenital diaphragmatic hernia, Hernia, Camptodactyly of finger, Cryptorc... ORPHA:3380
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
African Trypanosomiasis
Abnormal prolactin level, Hepatomegaly, Abnormality of renin-angiotensin system, Weight loss, Abn... ORPHA:3385
Hermansky-Pudlak Syndrome
Long eyelashes, Weight loss, Hypopigmentation of hair, Abnormal dental enamel morphology ORPHA:79430
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Hepatomegaly, Weight loss ORPHA:60025
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hip contracture, Failure to thrive, Weight loss, Knee flexion contract... ORPHA:2020
Sarcoidosis
Hepatomegaly, Scarring, Diabetes insipidus, Weight loss, Alopecia, Abnormal liver parenchyma morp... ORPHA:797
Juvenile Dermatomyositis
Weight loss, Alopecia ORPHA:93672
Postinfectious Vasculitis
Viral hepatitis, Weight loss, Orchitis ORPHA:48435
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma, Patent ductus arteriosus ORPHA:79076
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Weight loss, Splenomegaly, Enlarged lacrimal gl... OMIM:181000
Kikuchi-Fujimoto Disease
Hepatomegaly, Weight loss, Alopecia, Splenomegaly, Enlargement of parotid gland ORPHA:50918
Reactive Arthritis
Weight loss, Dystrophic fingernails, Enthesitis ORPHA:29207
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Cachexia, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Hepatospleno... ORPHA:2072
Seckel Syndrome
Sparse scalp hair, Cachexia, Abnormal dental enamel morphology ORPHA:808
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
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Norrie Disease
Cachexia, Failure to thrive, Diabetes mellitus, Cryptorchidism, Delayed puberty ORPHA:649
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Cachexia, Thymus hyperplasia, Diabetes insipidus, Neoplasm of t... ORPHA:744
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Riddle Syndrome
Weight loss ORPHA:420741
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Dermatomyositis
Weight loss, Cellulitis, Chondrocalcinosis, Abnormal hair quantity ORPHA:221
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Nijmegen Breakage Syndrome
Abnormal hair quantity, Abnormal hair morphology, Cachexia, Low anterior hairline ORPHA:647
Chronic Graft Versus Host Disease
Xerostomia, Nail dystrophy, Weight loss, Fasciitis, Alopecia, Flexion contracture ORPHA:99921
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Choreoacanthocytosis
Hepatomegaly, Weight loss, Splenomegaly ORPHA:2388
Marfan Syndrome
Cachexia, Slender build, Inguinal hernia ORPHA:558
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Hepatitis, Splenomegaly OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Chorioretinal scar, Renal tubular epithelial necrosis ORPHA:91500
Stickler Syndrome
Cachexia, Slender build, Abnormal dental enamel morphology ORPHA:828
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Splenomegaly ORPHA:75565
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

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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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