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Gene: Pdyn MGI:97535

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Gene Summary

Name:
prodynorphin
Synonyms:
Dyn

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal circulating iron level Pdynem1(IMPC)Rbrc HOM   Late adult 2.51×10-05
abnormal platelet cell number Pdynem1(IMPC)Rbrc HOM   Late adult 7.31×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Pdyn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pdyn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 23
Cerebellar atrophy OMIM:610245
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Gait ataxia ORPHA:101108

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Idiopathic Congenital Hypothyroidism
Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu... ORPHA:95717
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Vomiting,... ORPHA:314811
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thy... ORPHA:226313
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s... ORPHA:100083
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hereditary Central Diabetes Insipidus
Fever, Diarrhea, Weight loss, Vomiting, Lethargy, Polydipsia, Diabetes insipidus ORPHA:30925
Riboflavin Deficiency
Lethargy, Hypoglycemia, Hypothermia OMIM:615026
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia OMIM:619290
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Hypothermia OMIM:610006
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Hypothermia... ORPHA:90674
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Mantle Cell Lymphoma
Fever, Anorexia, Weight loss ORPHA:52416
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyro... ORPHA:90673
Central Diabetes Insipidus
Fever, Anorexia, Diarrhea, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Late-Onset Familial Hypoaldosteronism
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Vomiting, Incr... ORPHA:556037
Pulmonary Blastoma
Fever, Weight loss ORPHA:64741
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of th... ORPHA:324575
Spontaneous Periodic Hypothermia
Diarrhea, Ataxia, Hypothermia, Gait disturbance ORPHA:29822
Gcgr-Related Hyperglucagonemia
Stomatitis, Diabetes mellitus, Increased glucagon level, Glucagonoma ORPHA:438274
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Tuberculosis
Fever, Weight loss ORPHA:3389
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Hypothermia OMIM:245400
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive OMIM:606528
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia, Weight loss ORPHA:2023
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Vomiting, Increased c... ORPHA:556030
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:930
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... OMIM:618493
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Bowel incontinence, Hypothermia, Precocious puberty, Self-... ORPHA:58
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Nonketotic hypoglycemia, Ataxia, Anorexia, Hypothermia, Diarrhea, Weight loss, Recurrent h... ORPHA:20
Hemochromatosis, Type 2B
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... OMIM:613313
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Gai... ORPHA:399
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Hypothermia, Increased circulating free fatty acid level, Overweight, ... ORPHA:26793
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Absent pubic hair, Male hypogonadism, Decreased circulating... ORPHA:90793
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Meningococcal Meningitis
Fever, Projectile vomiting, Hypothermia, Anorexia, Lethargy ORPHA:33475
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Insulin resistance, Diarrhea, Hyperinsulinemia, Vomiting ORPHA:230
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Fasting hypoglycemia, Lethargy, Hypoketotic hypoglycemia ORPHA:159
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
Primary Erythromelalgia
Hypothermia ORPHA:90026
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hor... OMIM:617872
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Menkes Disease
Alopecia, Brittle hair, Hypothermia, Osteoporosis, Sparse hair OMIM:309400
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Diarrhea, Pitui... ORPHA:199299
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Weight loss, Vomiting, Lethargy, Failure to thrive OMIM:143880
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Anorexia, Weight loss ORPHA:86893
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Reticular Dysgenesis
Fever, Diarrhea, Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Generalized hirsutism ORPHA:317
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidu... ORPHA:293987
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Intestinal Dysmotility Syndrome
Failure to thrive, Diarrhea, Projectile vomiting, Weight loss OMIM:620045
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Gait ataxia, Weight loss, Vomiting, Failure to thrive OMIM:612075
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Hypothermia, Aggressive behavior, Unsteady gait, Flexion contracture, Choreoathetos... ORPHA:17
Solitary Fibrous Tumor
Fever, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Constipation, Hypophosphatemic rickets,... ORPHA:2126
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ataxia, Dysdiadochokinesis, Constipatio... ORPHA:99027
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffic... ORPHA:2047
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Weight loss, Constipation, Slender build OMIM:613662
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia ORPHA:168593
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Diarrhea, Tongue thrusting, Choreoathetosis, Athetosis, Constipation, G... OMIM:608643
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circula... ORPHA:1332
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sparse axillary h... ORPHA:90796
Mu-Heavy Chain Disease
Fever, Osteoporosis, Osteolysis, Weight loss ORPHA:100024
Aredyld Syndrome
Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Type II diab... ORPHA:1133
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Christianson Syndrome
Cachexia, Dysphagia, Gait ataxia, Gastroesophageal reflux, Inappropriate laughter, Truncal ataxia... ORPHA:85278
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Vomiting, Hypothermia, Hypoglycemia OMIM:251880
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Thymic Neuroendocrine Tumor
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, P... ORPHA:97289
Classic Hodgkin Lymphoma
Fever, Ataxia, Anorexia, Osteolysis, Weight loss ORPHA:391
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:2198
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hypothermia OMIM:618329
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Weight loss, Difficulty walking, Impaired oropharyngeal swallow respon... ORPHA:98897
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Tbck-Related Intellectual Disability Syndrome
Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermi... ORPHA:488632
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia... ORPHA:565
Hirschsprung Disease
Intestinal obstruction, Failure to thrive in infancy, Diarrhea, Weight loss, Constipation, Neopla... ORPHA:388
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine, Constipation, Hernia ORPHA:26790
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Gastroparesis, Scarring, Hiatus hernia, Thick hair, ... ORPHA:198
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Neuroendocrine Tumor Of The Colon
Anorexia, Protracted diarrhea, Melena, Bloody diarrhea, Weight loss, Atypical pulmonary carcinoid... ORPHA:100080
Neuroendocrine Tumor Of The Rectum
Anorexia, Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation, ... ORPHA:100082
Celiac Disease, Susceptibility To, 1
Alopecia, Ataxia, Diarrhea, Osteoporosis, Thyroiditis, Rickets, Weight loss, Vomiting, Recurrent ... OMIM:212750
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration OMIM:223360
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Alexander Disease Type I
Ataxia, Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Beta-Ketothiolase Deficiency
Fever, Ataxia, Hypoglycemia, Anorexia, Diarrhea, Weight loss, Vomiting, Agitation, Oral aversion,... ORPHA:134
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
Inflammatory Pseudotumor Of The Liver
Fever, Diabetes mellitus, Weight loss, Vomiting, Nausea ORPHA:90003
Aceruloplasminemia
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia OMIM:604290
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Ataxia, Hypothermia, Vomiting, Addictive alcohol use, Nausea ORPHA:31826
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis, Hypothermia OMIM:618775
Somatostatinoma
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Elevated circulating grow... ORPHA:97283
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Hypoglycemia, Cachexia, Diarrhea, Distal arthrogryposis, Vomiting, Lethargy ORPHA:42
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hypoglycemia, Hypothermia, Stomatitis, Lethargy, Failure to thrive ORPHA:79282
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Sparse axil... ORPHA:95409
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Gait ataxia, Dysphagia, Failure to thrive, Episodic vomiting ORPHA:255210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... ORPHA:97287
Huntington Disease-Like 2
Bradykinesia, Weight loss OMIM:606438
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... ORPHA:3163
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Gait disturbance, Cachexia ORPHA:157973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Diarrhea, Weight loss, G... ORPHA:298
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia OMIM:606069
Ppoma
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... ORPHA:97278
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia OMIM:608800
Immunodeficiency 27A
Fever, Diarrhea, Anorexia, Weight loss OMIM:209950
Huntington Disease-Like 1
Restlessness, Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance ORPHA:157941
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Dec... ORPHA:453533
Fatal Familial Insomnia
Fever, Ataxia, Weight loss, Constipation, Dysphagia OMIM:600072
Vipoma
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... ORPHA:97282
Secondary Short Bowel Syndrome
Diarrhea, Enterocolitis, Central hypothyroidism, Weight loss, Constipation, Vomiting, Primary hyp... ORPHA:95427
Polymyositis
Gastrointestinal hemorrhage, Fever, Anorexia, Weight loss, Constipation, Gastroesophageal reflux,... ORPHA:732
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte... OMIM:266600
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Inability to walk, Constipation OMIM:616801
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse ... ORPHA:424
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Cryptogenic Organizing Pneumonia
Fever, Cyanosis, Anorexia, Weight loss, Hypoxemia ORPHA:1302
Hemochromatosis, Type 2A
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Elevated circulating grow... ORPHA:97280
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Eosinophilic Fasciitis
Weight loss, Fasciitis, Acrocyanosis, Cellulitis ORPHA:3165
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Weight loss, Hyperglycemia, Letha... ORPHA:465508
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Hypothermia, Abnormality of the endocrine system, Inability to walk... ORPHA:438213
Neuroendocrine Tumor Of Stomach
Anorexia, Hematemesis, Increased circulating ACTH level, Protracted diarrhea, Melena, Bloody diar... ORPHA:100075
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Grfoma
Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr... ORPHA:97261
Perry Syndrome
Akinesia, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition, Short stepped shuffli... OMIM:168605
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Thin eyebrow ORPHA:3242
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... ORPHA:642
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Osteosarcoma
Fever, Osteolysis, Weight loss ORPHA:668
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Anorexia, Aggressive behavior, Hypothermia, Diarrhea, Bloody diarrhea, Vomit... ORPHA:99826
X-Linked Agammaglobulinemia
Fever, Alopecia, Chronic diarrhea, Weight loss, Cellulitis, Failure to thrive ORPHA:47
Follicular Lymphoma
Fever, Weight loss ORPHA:545
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Anorexia, Weight loss, Lethargy ORPHA:79242
Isaacs Syndrome
Weight loss ORPHA:84142
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Agitation, Vomiting, Dysphagia, Nausea ORPHA:94093
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Hernia, Weight loss ORPHA:1842
Wolman Disease
Fever, Adrenal calcification, Cachexia, Adrenal insufficiency, Steatorrhea ORPHA:75233
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Gait disturbance, Carpal os... ORPHA:2774
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Fine hair, Weight loss, ... ORPHA:2221
Whipple Disease
Gastrointestinal hemorrhage, Fever, Ataxia, Cachexia, Anorexia, Diarrhea, Insulin resistance, Pol... ORPHA:3452
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... ORPHA:99819
Parathyroid Carcinoma
Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Weight loss, Elevated... ORPHA:143
Focal Myositis
Fever, Weight loss ORPHA:48918
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Cronkhite-Canada Syndrome
Alopecia, Cachexia, Anorexia, Diarrhea, Dystrophic toenail, Patchy alopecia, Dystrophic fingernai... ORPHA:2930
Pfapa Syndrome
Abnormality of temperature regulation, Weight loss ORPHA:42642
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Acute Monoblastic/Monocytic Leukemia
Fever, Weight loss, Anorexia, Central hypothyroidism ORPHA:514
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Panniculitis, Weight loss ORPHA:86884
Gm1 Gangliosidosis
Inguinal hernia, Ataxia, Camptodactyly of finger, Unsteady gait, Weight loss, Gastroesophageal re... ORPHA:354
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... ORPHA:320
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine OMIM:191390
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Majeed Syndrome
Fever, Increased bone mineral density, Cachexia, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Allergic Bronchopulmonary Aspergillosis
Low-grade fever, Weight loss ORPHA:1164
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Weight loss, Ataxia, Knee flexion contracture ORPHA:3208
Takayasu Arteritis
Fever, Anorexia, Weight loss ORPHA:3287
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Eosinophilic Gastroenteritis
Diarrhea, Steatorrhea, Weight loss, Hematochezia, Vomiting, Dysphagia ORPHA:2070
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyperostosis, Inflammation of the la... ORPHA:324964
Mulibrey Nanism
Cachexia ORPHA:2576
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... OMIM:131100
Ménétrier Disease
Gastrointestinal hemorrhage, Nausea, Anorexia, Diarrhea, Weight loss, Gastroesophageal reflux, Vo... ORPHA:2494
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Vomiting, Premature adrenarche, Hypo... ORPHA:90794
Cap Polyposis
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation ORPHA:160148
Kaposi Sarcoma
Fever, Diarrhea, Weight loss ORPHA:33276
Benign Recurrent Intrahepatic Cholestasis
Chronic diarrhea, Anorexia, Weight loss ORPHA:65682
Leishmaniasis
Recurrent fever, Anorexia, Weight loss ORPHA:507
Sarcoidosis
Fever, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Bone cyst, Weight lo... ORPHA:797
Nodular Non-Suppurative Panniculitis
Fever, Panniculitis, Weight loss ORPHA:33577
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Ileus, Athetosis, Constipation, Self-mutilation ORPHA:52503
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circula... ORPHA:90790
Rett Syndrome
Cachexia, Gait apraxia, Bruxism, Gait ataxia, Constipation, Gastroesophageal reflux, Truncal atax... OMIM:312750
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Diarrhea, Weight loss ORPHA:411703
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Trigeminal Neuralgia
Allodynia ORPHA:221091
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Diarrhea, Weight loss, Increased serum serotonin, Carcinoid tumor, Nausea, Neuroendocri... ORPHA:100085
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Abnormal hai... ORPHA:85293
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Nausea, Paraganglioma, Weight loss ORPHA:94080
Rhabdoid Tumor
Fever, Weight loss ORPHA:69077
Neuroblastoma, Susceptibility To, 1
Fever, Ataxia, Diarrhea, Weight loss, Failure to thrive OMIM:256700
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Weight loss, Bradykinesia, Chronic constipation, Agitation, Shuffling gait... ORPHA:411602
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Flexion contracture, Weight loss, Constipation, G... ORPHA:144
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Osteoporosis, Osteolysis, Weight loss ORPHA:98850
Yao Syndrome
Diarrhea, Xerostomia, Recurrent fever, Weight loss OMIM:617321
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Self-injurious be... ORPHA:371364
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail... ORPHA:905
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Fever, Weight loss ORPHA:79127
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Lower-limb joint contracture, ... ORPHA:300605
Gerstmann-Straussler Disease
Aggressive behavior, Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia OMIM:137440
Erdheim-Chester Disease
Fever, Increased bone mineral density, Ataxia, Hypogonadotropic hypogonadism, Osteolysis, Weight ... ORPHA:35687
Glucose-Galactose Malabsorption
Fever, Diarrhea, Weight loss, Vomiting, Failure to thrive ORPHA:35710
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Flexion contracture, Weight loss, Constipation, G... ORPHA:440437
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Lower-limb joint contracture, ... ORPHA:99885
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Central hypot... OMIM:616113
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Bowel incontinence, Choreoathetosis, Gait disturb... ORPHA:702
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogo... ORPHA:91347
Immunodeficiency 31C
Osteopenia, Fever, Diabetes mellitus, Diarrhea, Weight loss, Delayed puberty, Hypothyroidism OMIM:614162
Giant Cell Arteritis
Fever, Alopecia, Ataxia, Anorexia, Weight loss, Diabetes insipidus ORPHA:397
Mcdonough Syndrome
Synophrys, Cachexia ORPHA:2471
Eosinophilic Granulomatosis With Polyangiitis
Fever, Intestinal obstruction, Weight loss, Gastroesophageal reflux, Gait disturbance, Dysphagia,... ORPHA:183
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Diarrhea, Xerostomia, Hematochezia, Vomiting, Nail dystrophy OMIM:175500
Familial Pancreatic Carcinoma
Diabetes mellitus, Anorexia, Weight loss, Intermittent diarrhea, Exocrine pancreatic insufficiency ORPHA:1333
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Fever, Weight loss ORPHA:2902
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Paraganglioma, Dysphagia ORPHA:97286
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Lymphoid Interstitial Pneumonia
Fever, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive ORPHA:79128
Idiopathic Bronchiectasis
Fever, Cachexia ORPHA:60033
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss ORPHA:168816
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Weight loss ORPHA:103910
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Acute Promyelocytic Leukemia
Fever, Anorexia, Weight loss, Addictive alcohol use, Stomatitis ORPHA:520
Tropical Pancreatitis
Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, Weight loss, Vomiting, Nausea ORPHA:103918
Polyarteritis Nodosa
Fever, Weight loss ORPHA:767
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Gastroesophageal reflux, Arthrogryposis mu... OMIM:618186
Diffuse Alveolar Hemorrhage
Hypoxemia, Fever, Weight loss ORPHA:90060
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Generalized hirsutism, Cachexia ORPHA:1933
Oromandibular Dystonia
Weight loss, Bruxism, Dysphagia ORPHA:93958
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Weight loss, Vomiting, Steatorrhea, Failure to thrive ORPHA:92050
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Diarrhea, Weight loss ORPHA:54251
Pneumocystosis
Hypoxemia, Fever, Weight loss ORPHA:723
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Mast Cell Sarcoma
Weight loss ORPHA:66661
Deafness-Lymphedema-Leukemia Syndrome
Fever, Weight loss ORPHA:3226
Amoebiasis Due To Entamoeba Histolytica
Fever, Intestinal obstruction, Diarrhea, Protracted diarrhea, Bloody diarrhea, Weight loss, Acute... ORPHA:67
Primary Myelofibrosis
Fever, Low-grade fever, Cachexia, Anorexia ORPHA:824
Felty Syndrome
Weight loss, Osteolysis, Cellulitis ORPHA:47612
Nephroblastoma
Fever, Weight loss ORPHA:654
Igg4-Related Aortitis
Fever, Intestinal obstruction, Weight loss ORPHA:449400
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Weight loss ORPHA:168811
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Weight loss ORPHA:330001
Perry Syndrome
Weight loss ORPHA:178509
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Gastroparesis, Cachexia, Diarrhea, Weight loss, Constipation, Vomiting, Dysphagia, Intermittent d... OMIM:603041
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Thymoma
Fever, Neoplasm of the thyroid gland, Ulcerative colitis, Weight loss ORPHA:99867
Alveolar Echinococcosis
Fever, Ataxia, Bone cyst, Weight loss, Vomiting, Abnormal adrenal morphology ORPHA:284
Aicardi-Goutieres Syndrome 9
Osteoporosis, Weight loss, Failure to thrive, Hypothyroidism, Self-mutilation OMIM:619487
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive ORPHA:37
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:29072
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Anorexia, Abnormal subcutaneous fat tissue distribution, Craniof... ORPHA:1328
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Fever, Cyanosis, Weight loss ORPHA:747
Malt Lymphoma
Abnormality of the thyroid gland, Fever, Constipation, Weight loss ORPHA:52417
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Fever, Intestinal obstruction, Peritonitis, Weight loss ORPHA:131
Rheumatoid Arthritis
Fever, Weight loss OMIM:180300
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Weight loss, Gastroesophageal refl... ORPHA:85450
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia ORPHA:884
Cystinosis, Nephropathic
Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dyspha... OMIM:219800
Desmoplastic Small Round Cell Tumor
Ileus, Cachexia, Weight loss ORPHA:83469
Microsporidiosis
Fever, Cachexia, Anorexia, Peritonitis, Chronic diarrhea, Abnormality of the parathyroid gland, T... ORPHA:2552
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:276621
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Thyroiditis, Weight loss ORPHA:139402
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Weight loss, Colitis, Steatorrhea, Exocrine pancre... ORPHA:309031
African Trypanosomiasis
Alopecia, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Diarrhea, Abnormali... ORPHA:3385
Refractory Celiac Disease
Chronic diarrhea, Osteoporosis, Weight loss ORPHA:398063
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr... ORPHA:109
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Hyperthyroidism, Gastritis, Failure to thrive in infancy, Cachexia, Abnormality of the ... ORPHA:37042
Hemochromatosis, Type 1
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration OMIM:235200
Infantile Krabbe Disease
Cachexia, Gastroesophageal reflux, Vomiting, Unexplained fevers, Temperature instability, Failure... ORPHA:206436
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... ORPHA:740
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Ileal Neuroendocrine Tumor
Weight loss, Small intestine carcinoid, Increased serum serotonin, Intermittent diarrhea, Episodi... ORPHA:100078
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Anorexia, Weight loss ORPHA:370348
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Fever, Alopecia, Weight loss, Constipation, Dysphagia ORPHA:93672
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Gastroparesis, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait at... OMIM:607459
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Abnormal eyebrow morphology, Increased bone mineral density, Sh... ORPHA:800
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Nausea, Anorexia, Weight loss ORPHA:100086
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ... OMIM:222470
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Osteootohepatoenteric Syndrome
Secretory diarrhea, Reduced bone mineral density, Weight loss, Failure to thrive, Episodic vomiting OMIM:619377
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Sparse hair, Failure to th... ORPHA:217346
Igg4-Related Retroperitoneal Fibrosis
Fever, Anorexia, Weight loss, Constipation, Hashimoto thyroiditis ORPHA:49041
Reactive Arthritis
Fever, Diarrhea, Weight loss, Enthesitis, Inflammation of the large intestine, Recurrent aphthous... ORPHA:29207
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Adrenal calcification, Cachexia, Diarrhea, Primary adrenal insufficiency, W... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fever, Diarrhea, Osteoporosis, Weight loss, Nausea ORPHA:98849
Chronic Beryllium Disease
Weight loss ORPHA:133
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypercapnia, Ankle flexion contracture, Flexion contracture, ... ORPHA:2020
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... ORPHA:309854
Nocardiosis
Fever, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Vomiti... ORPHA:31204
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Chronic gastritis, Diarrhea, Weight loss, Chronic constipation, Inflammation of the large ... OMIM:301074
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Failure to thrive OMIM:610965
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... ORPHA:101330
Liposarcoma
Weight loss ORPHA:69078
Caroli Disease
Fever, Anorexia, Weight loss, Vomiting, Nausea ORPHA:53035
Systemic Capillary Leak Syndrome
Diarrhea, Weight loss ORPHA:188
Primary Sclerosing Cholangitis
Osteopenia, Fever, Osteoporosis, Thyroiditis, Ulcerative colitis, Weight loss, Type I diabetes me... ORPHA:171
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hypoperistalsis, Weight loss, Gastroesophageal reflux, Vomiting, Dysphagia, Achalasia, Failure to... ORPHA:1018
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Fever, Diarrhea, Weight loss, Dysphagia ORPHA:36426
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... ORPHA:139507
Imerslund-Gräsbeck Syndrome
Constipation, Failure to thrive, Vomiting, Weight loss ORPHA:35858
Trichohepatoenteric Syndrome 2
Decreased serum iron OMIM:614602
Riddle Syndrome
Ataxia, Diarrhea, Weight loss, Gait disturbance, Recurrent fever ORPHA:420741
Klatskin Tumor
Fever, Weight loss ORPHA:99978
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Craniosynostosis, Inability to walk, White hair, Knee... ORPHA:576
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Oculopharyngodistal Myopathy 1
Ataxia, Hypercapnia, Weight loss, Difficulty walking, Dysphagia OMIM:164310
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexi... ORPHA:79430
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Xerostomia, Weight loss, Dysphagia ORPHA:85443
Aicardi-Goutieres Syndrome 7
Fever, Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Weight loss, Hyp... OMIM:615846
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Loeffler Endocarditis
Weight loss ORPHA:75566
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... ORPHA:89842
Polycythemia Vera
Gastrointestinal hemorrhage, Myelofibrosis, Weight loss ORPHA:729
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Diabetes mellitus, Ataxia, Cachexia, Inability to ... ORPHA:191
Primary Intestinal Lymphangiectasia
Chronic diarrhea, Weight loss ORPHA:90362
Cystic Echinococcosis
Bone cyst, Weight loss ORPHA:400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia, Steatorrhea ORPHA:3217
Sarcoidosis, Susceptibility To, 1
Fever, Anorexia, Bone cyst, Weight loss, Hypoxemia, Inflammation of the large intestine OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Flexion contracture, Low-grade fever, Enthesitis ORPHA:85408
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Unexplained fevers, Weight loss ORPHA:91139
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Cachexia ORPHA:1876
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia, Anorexia ORPHA:1969
Q Fever
Fever, Anorexia, Weight loss ORPHA:781
Dermatomyositis
Abnormal hair quantity, Fever, Weight loss, Cellulitis, Acrocyanosis, Chondrocalcinosis ORPHA:221
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Rat-Bite Fever
Fever, Diarrhea, Weight loss, Vomiting, Parotitis ORPHA:31205
Pulmonary Alveolar Microlithiasis
Fever, Cyanosis, Weight loss, Hypoxemia, Stippled calcification in carpal bones, Oxygen desaturat... ORPHA:60025
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Behçet Disease
Gastrointestinal hemorrhage, Fever, Ataxia, Anorexia, Weight loss, Gait disturbance, Recurrent ap... ORPHA:117
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Osteomalacia, Anorexia, Diarrhea, Weight loss, Colitis, Vomiting, Crohn's disease, Int... OMIM:619381
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Diarrhea, Hematochezia, Melena, Intestinal bleeding, Subcu... ORPHA:79076
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Weight loss, Dysphagia ORPHA:537
Postinfectious Vasculitis
Fever, Anorexia, Weight loss, Gastrointestinal inflammation, Acrocyanosis ORPHA:48435
Seckel Syndrome
Sparse scalp hair, Craniosynostosis, Abnormal dental enamel morphology, Cachexia ORPHA:808
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Fever, Intestinal obstruction, Weight loss, Abnormality of the hypot... ORPHA:900
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Osteomalacia, Weight loss, Glycosuria, Hypophosphatemic rickets ORPHA:3337
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss OMIM:613673
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Peritonitis, Weight loss ORPHA:679
Granulomatosis With Polyangiitis
Fever, Weight loss OMIM:608710
Castleman Disease
Myelofibrosis, Intestinal obstruction, Weight loss ORPHA:160
Pyomyositis
Fever, Weight loss ORPHA:764
Brucellosis
Fever, Small for gestational age, Anorexia, Weight loss, Vomiting, Failure to thrive, Nausea ORPHA:1304
Chronic Graft Versus Host Disease
Fasciitis, Alopecia, Anorexia, Diarrhea, Flexion contracture, Xerostomia, Weight loss, Gastroesop... ORPHA:99921
Trisomy 18
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia ORPHA:3380
Pancreatoblastoma
Diarrhea, Vomiting, Weight loss ORPHA:677
Fanconi Anemia
Reduced bone mineral density, Weight loss, Hypogonadism, Umbilical hernia, Abnormality of the hyp... ORPHA:84
Kikuchi-Fujimoto Disease
Alopecia, Ataxia, Anorexia, Low-grade fever, Weight loss ORPHA:50918
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Xerostomia, Thyroiditis, Weight loss, Nodular goiter ORPHA:79078
Benign Schwannoma
Allodynia ORPHA:252164
Nijmegen Breakage Syndrome
Abnormal hair quantity, Cachexia, Abnormal hair morphology, Chronic diarrhea, Low anterior hairli... ORPHA:647
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Renal Nutcracker Syndrome
Nausea, Weight loss ORPHA:71273
Marfan Syndrome
Osteopenia, Inguinal hernia, Cachexia, Osteoporosis, Attention deficit hyperactivity disorder, Sl... ORPHA:558
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia ORPHA:220295
Multiple Myeloma
Osteopenia, Weight loss ORPHA:29073
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Limb ataxia, Abnormal temper tantrums, Delayed puberty ORPHA:2072
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Neoplasm of th... ORPHA:744
Familial Thrombocytosis
Weight loss ORPHA:71493
Tubulointerstitial Nephritis And Uveitis Syndrome
Fever, Chorioretinal scar, Anorexia, Weight loss ORPHA:91500
Norrie Disease
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... ORPHA:649
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Reduced bone mineral density, Gastroesophageal reflu... ORPHA:828
Spinocerebellar Ataxia 23
Cerebellar atrophy OMIM:610245
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss ORPHA:449395
Goodpasture Syndrome
Fever, Cyanosis, Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Fever, Cachexia ORPHA:75565
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Gait ataxia ORPHA:101108

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 Pdyn

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 Pdyn.

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

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
Pdyntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pdyntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdynem1(IMPC)Rbrc Indel Mice

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