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Gene: Col5a3 MGI:1858212

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail... OMIM:246200
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Generalized hirsutism ORPHA:79087
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic stea... OMIM:613877
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ... ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis OMIM:615980
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... 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
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... ORPHA:528
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Cry... OMIM:615381
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con... OMIM:175700
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion... OMIM:214150
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Abnor... ORPHA:2088
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp... ORPHA:456312
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormal testis morphology, G... ORPHA:317
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Alopecia, Sparse scalp hair, Impaired... OMIM:248370
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Pulmonary Blastoma
Weight loss ORPHA:64741
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... OMIM:610199
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Short Syndrome
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, I... ORPHA:3163
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss, Hyperhidrosis ORPHA:86893
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... ORPHA:2849
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of... ORPHA:90003
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... OMIM:613327
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Tuberculosis
Weight loss ORPHA:3389
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Werner Syndrome
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Insulin resistance, Ovarian n... ORPHA:902
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... OMIM:600001
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Hepatosplenomeg... ORPHA:1333
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Conge... ORPHA:2255
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Facial hypertrichosis, Insul... ORPHA:508
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... OMIM:227810
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis ORPHA:1672
Idiopathic Achalasia
Weight loss ORPHA:930
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity, Horizontal eyebrow ORPHA:96168
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response t... OMIM:602782
Cole Disease
Hyperglycemia OMIM:615522
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Truncal obesity, Sparse h... OMIM:616541
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Hernia, Weight loss ORPHA:26790
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Hyperhidrosis, Weight loss, Ph... ORPHA:1332
Pancreatic Agenesis-Holoprosencephaly Syndrome
Small for gestational age, Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Panc... ORPHA:556955
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... ORPHA:97283
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroi... ORPHA:97282
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... ORPHA:93111
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Thin eyebrow, Decreased tes... ORPHA:3242
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Hepatic steatosis ORPHA:42
Huntington Disease-Like 2
Weight loss ORPHA:98934
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... ORPHA:83469
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periporta... OMIM:124000
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Adreno... ORPHA:199299
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Type I diabetes... OMIM:618500
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Shwachman-Diamond Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Decreased response to growth hormone stimulat... ORPHA:811
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hyperhidrosis, Diabetic ketoacid... ORPHA:358
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Insulin resistance, Generalized lipodystrophy, Nail dystrophy... ORPHA:90154
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Weight loss, Hernia, Failure to thrive ORPHA:1842
Chronic Hiccup
Weight loss ORPHA:396
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... ORPHA:97280
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Liver abscess, Abnormal testis morphology, Weight loss ORPHA:54251
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97278
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss, Hyperhidrosis ORPHA:391
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Cirrhosis, A... ORPHA:905
Alstrom Syndrome
Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased respo... OMIM:203800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Flexion contracture,... ORPHA:90153
Dend Syndrome
Hyperglycemia ORPHA:79134
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h... ORPHA:444077
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... ORPHA:298
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency ORPHA:75233
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... ORPHA:400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... ORPHA:2930
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Sparse eyelashes, Adipose tissue loss, Insulin resi... ORPHA:125
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ... ORPHA:2221
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato... ORPHA:20
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Huntington Disease-Like 2
Weight loss OMIM:606438
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Jaundice, Ovarian neoplasm, Weight loss, Pancreatitis ORPHA:370348
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Immunodeficiency 27A
Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:209950
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Sparse axillary hair, Pri... ORPHA:95409
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hepatosplenomegaly ORPHA:86884
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Microvesicular h... OMIM:220111
Scorpion Envenomation
Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Celiac Disease, Susceptibility To, 1
Alopecia, Thyroiditis, Weight loss, Delayed puberty, Type I diabetes mellitus, Enamel hypoplasia,... OMIM:212750
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Mcdonough Syndrome
Cryptorchidism, Synophrys, Cachexia ORPHA:2471
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Weight loss, Cellulitis, Failure to thrive ORPHA:47
Leishmaniasis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:507
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Increa... ORPHA:90794
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive ORPHA:95427
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... ORPHA:171
Non-Functioning Paraganglioma
Episodic hyperhidrosis, Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... ORPHA:100080
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Majeed Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... ORPHA:144
Juvenile Huntington Disease
Weight loss ORPHA:248111
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Hepatosplenomegaly, Weight... OMIM:619487
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:3226
Immunodeficiency 31C
Hepatomegaly, Diabetes mellitus, Splenomegaly, Weight loss, Delayed puberty, Hypothyroidism OMIM:614162
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Weight loss... ORPHA:100085
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contractur... ORPHA:83617
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia, Hypohidrosis ORPHA:884
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus ORPHA:97229
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... ORPHA:440437
Takayasu Arteritis
Weight loss, Hyperhidrosis ORPHA:3287
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Steinert Myotonic Dystrophy
Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:273
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcino... ORPHA:100082
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Christianson Syndrome
Arthrogryposis multiplex congenita, Thick eyebrow, Cachexia ORPHA:85278
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Felty Syndrome
Splenomegaly, Hepatomegaly, Cellulitis, Weight loss ORPHA:47612
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:176270
Eosinophilic Fasciitis
Fasciitis, Cellulitis, Weight loss ORPHA:3165
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Weight loss, He... ORPHA:354
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Weight loss ORPHA:3208
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Focal Myositis
Weight loss ORPHA:48918
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome... OMIM:219800
Aggressive Systemic Mastocytosis
Hypersplenism, Weight loss, Portal hypertension, Hepatosplenomegaly ORPHA:98850
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia OMIM:616801
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Perry Syndrome
Weight loss ORPHA:178509
Polymyositis
Hepatomegaly, Chondrocalcinosis, Weight loss ORPHA:732
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Increased circulating ACTH level, Weight loss, Paraganglioma, Atypical pulmonary ca... ORPHA:100075
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine s... ORPHA:37042
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hy... ORPHA:85293
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:276621
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Huntington Disease-Like 1
Weight loss ORPHA:157941
Primary Myelofibrosis
Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly ORPHA:824
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr... ORPHA:109
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Sparse hai... ORPHA:217346
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Thyroiditis, Weight loss ORPHA:139402
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:29072
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonit... ORPHA:2552
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Refractory Celiac Disease
Abnormal spleen physiology, Weight loss ORPHA:398063
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss ORPHA:251071
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperp... OMIM:130650
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypothyroidism OMIM:613673
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... ORPHA:371364
Osteosarcoma
Weight loss ORPHA:668
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss ORPHA:79242
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Xerostomia, Nail dystrophy, Cachexia OMIM:175500
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Weight loss, Hypogonadism, Abnormal... ORPHA:85450
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Chronic Beryllium Disease
Weight loss ORPHA:133
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss ORPHA:90362
Liposarcoma
Weight loss ORPHA:69078
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Cap Polyposis
Weight loss ORPHA:160148
Familial Thrombocytosis
Splenomegaly, Weight loss, Hyperhidrosis ORPHA:71493
Al Amyloidosis
Hepatomegaly, Xerostomia, Weight loss, Abnormality of the liver, Abnormal salivary gland morphology ORPHA:85443
Rat-Bite Fever
Pancreatitis, Parotitis, Weight loss ORPHA:31205
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Prima... ORPHA:275761
Giant Cell Arteritis
Alopecia, Weight loss, Diabetes insipidus, Hyperhidrosis ORPHA:397
Polyarteritis Nodosa
Weight loss ORPHA:767
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Stevens-Johnson Syndrome
Pancreatitis, Weight loss ORPHA:36426
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Weight loss ORPHA:67
Toxic Epidermal Necrolysis
Pancreatitis, Weight loss ORPHA:537
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight loss, Abnormality of the liver,... ORPHA:781
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Hyperhidrosis, Diabetes ins... ORPHA:35687
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Ileal Neuroendocrine Tumor
Increased serum serotonin, Small intestine carcinoid, Extrahepatic cholestasis, Weight loss ORPHA:100078
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Perry Syndrome
Weight loss OMIM:168605
Loeffler Endocarditis
Weight loss ORPHA:75566
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Oromandibular Dystonia
Weight loss ORPHA:93958
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Weight loss ORPHA:98849
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Igg4-Related Aortitis
Weight loss ORPHA:449400
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, Splenomegaly, White hair, Weight loss, Hepatosplenome... ORPHA:576
Rheumatoid Arthritis
Weight loss OMIM:180300
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Granulomatosis With Polyangiitis
Diabetes insipidus, Weight loss, Abnormality of the hypothalamus-pituitary axis, Prostatitis, Pan... ORPHA:900
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Ménétrier Disease
Weight loss ORPHA:2494
Simple Cryoglobulinemia
Viral hepatitis, Weight loss ORPHA:91139
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hashimoto thyroiditis, Renal tubular epithelial necrosis, Weight loss ORPHA:49041
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Weight loss ORPHA:37
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlarge... ORPHA:79078
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Failure to thrive OMIM:610965
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis ORPHA:52417
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Atelis Syndrome 2
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... ORPHA:99413
Turner Syndrome
Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... ORPHA:881
Mosaic Monosomy X
Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... ORPHA:99228
Monosomy X
Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... ORPHA:99226
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Pneumocystosis
Weight loss ORPHA:723
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Diabetes mellitus, Dry hair, Cache... ORPHA:191
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Castleman Disease
Jaundice, Weight loss ORPHA:160
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... ORPHA:449395
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Flexion contracture, Enthesitis, Hepatosplenomegaly ORPHA:85408
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Orchitis, Splenomegaly, Hy... ORPHA:1304
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Behçet Disease
Orchitis, Splenomegaly, Pancreatitis, Weight loss ORPHA:117
Nocardiosis
Liver abscess, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis ORPHA:31204
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Hypogonadism... ORPHA:1328
Fanconi Anemia
Cryptorchidism, Patent ductus arteriosus, Weight loss, Abnormality of the liver, Hypogonadism, Um... ORPHA:84
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Abnormal eyebrow morphology, Shoulder flexion contracture, Cach... ORPHA:800
Rett Syndrome
Cachexia OMIM:312750
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ... ORPHA:3380
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Abnormal dental enamel morphology, Weight loss ORPHA:79430
Sarcoidosis
Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Enlar... ORPHA:797
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
African Trypanosomiasis
Hepatomegaly, Alopecia, Abnormality of the endocrine system, Splenomegaly, Jaundice, Hepatospleno... ORPHA:3385
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Flexion contracture, E... ORPHA:2020
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Weight loss ORPHA:60025
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Kikuchi-Fujimoto Disease
Hepatomegaly, Alopecia, Splenomegaly, Weight loss, Enlargement of parotid gland ORPHA:50918
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Weight loss, Abnormal salivary gland morpho... OMIM:181000
Postinfectious Vasculitis
Orchitis, Viral hepatitis, Weight loss ORPHA:48435
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Subcutaneous lipoma, Cachexia ORPHA:79076
Seckel Syndrome
Sparse scalp hair, Abnormal dental enamel morphology, Cachexia ORPHA:808
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Delayed ... ORPHA:2072
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Reactive Arthritis
Dystrophic fingernails, Enthesitis, Weight loss ORPHA:29207
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive ORPHA:649
Riddle Syndrome
Weight loss ORPHA:420741
Yellow Fever
Acute pancreatitis, Pancreatic hyperplasia, Jaundice ORPHA:99829
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Enlarged po... ORPHA:744
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Dermatomyositis
Abnormal hair quantity, Cellulitis, Chondrocalcinosis, Weight loss ORPHA:221
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Nijmegen Breakage Syndrome
Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology ORPHA:647
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Flexion contracture, Xerostomia, Weight loss, Nail dystrophy ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Hepatitis, Weight loss OMIM:619381
Choreoacanthocytosis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:2388
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Marfan Syndrome
Inguinal hernia, Slender build, Cachexia ORPHA:558
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Renal tubular epithelial necrosis, Weight loss ORPHA:91500
Stickler Syndrome
Slender build, Abnormal dental enamel morphology, Cachexia ORPHA:828
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Cachexia 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

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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