Not currently registered for phenotyping at IMPC

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

Gene Summary

SMAD family member 4
Madh4,  Smad 4,  Dpc4,  DPC4,  D18Wsu70e

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Smad4 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 predicted to be associated to Smad4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Familial Adenomatous Polyposis 4
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer OMIM:617100
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Gastric Cancer
Stomach cancer OMIM:613659
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Ovarian neoplasm, Benign gastrointestin... OMIM:158320
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... OMIM:613244
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Familial Multinodular Goiter
Sertoli cell neoplasm, Ovarian neoplasm, Thyroid carcinoma, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... OMIM:135150
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Intussusception, Prosta... ORPHA:157794
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... ORPHA:263665
Jejunal Atresia
Jejunal atresia OMIM:243600
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal rectum morphology,... ORPHA:251992
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Neoplasm of the central nervous system, Neopla... ORPHA:83469
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Hirschsprung Disease
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... ORPHA:388
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... ORPHA:144
Desmoid Tumor
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... ORPHA:873
Acquired Hypertrichosis Lanuginosa
Neoplasm, Ovarian neoplasm, Macroglossia, Neoplasm of the respiratory system, Neoplasm of the bre... ORPHA:2221
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Diarrhea 9
Villous atrophy OMIM:618168
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine, Lymphoma ORPHA:100025
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Breast carci... ORPHA:587
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Cowden Syndrome 1
High palate, Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... OMIM:158350
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Cronkhite-Canada Syndrome
Malabsorption, Neoplasm, Stomach cancer, Furrowed tongue, Intestinal polyposis, Colon cancer, Gas... ORPHA:2930
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Duodenal Atresia
Duodenal atresia OMIM:223400
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Neoplasm of the liver, Breast carcinoma, Melanoma, Colon cancer, Intes... ORPHA:1333
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... OMIM:616425
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Colonic Atresia
Colonic atresia OMIM:303650
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... OMIM:601346
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Intestinal bleeding, Anal canal squamou... ORPHA:424019
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Breast carcinoma OMIM:617883
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Chylous Ascites
Abnormal intestine morphology, Neoplasm ORPHA:1160
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast ORPHA:618
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the... ORPHA:100079
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... ORPHA:97286
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... OMIM:615237
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, Acute leukemia ORPHA:281090
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Lhermitte-Duclos Disease
Ovarian neoplasm, Macroglossia, Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Juvenile Polyposis Syndrome
Small intestinal polyposis, Neoplasm of the pancreas, Intussusception, Stomach cancer, Intestinal... ORPHA:2929
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis, Breast carcinoma OMIM:608615
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ne... ORPHA:2869
Immunodeficiency 61
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation OMIM:300310
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Turcot Syndrome With Polyposis
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... ORPHA:99818
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hypoplasia of the th... OMIM:243150
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... ORPHA:252164
Atresia Of Small Intestine
Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia ORPHA:1201
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Tylosis With Esophageal Cancer
Neoplasm, Esophageal carcinoma OMIM:148500
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Hematochezia ORPHA:160148
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614350
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... OMIM:619097
Fanconi Anemia, Complementation Group W
Myelodysplasia, Duodenal atresia, Decreased response to growth hormone stimulation test OMIM:617784
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Pancreatic hypoplasia,... OMIM:615710
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... ORPHA:95427
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp, Lactose intolerance ORPHA:457485
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Mccune-Albright Syndrome
Pituitary adenoma, Intestinal polyposis OMIM:174800
Apert Syndrome
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Esophageal atresia ORPHA:87
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
Basal Cell Nevus Syndrome
Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... OMIM:109400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... OMIM:300048
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Intussu... OMIM:175200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastrointestinal ... OMIM:175500
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption OMIM:600955
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... ORPHA:370348
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Narrow palate, Uterine neoplasm, Neoplasm of the adrenal cor... ORPHA:109
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Blue Rubber Bleb Nevus
Intestinal bleeding, Intussusception, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Vo... OMIM:112200
Pten Hamartoma Tumor Syndrome
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... ORPHA:306498
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Intestinal malrotation, Colonic diverticula, Intestinal pseudo-obstruction, Functional intestinal... OMIM:243180
Reynolds Syndrome
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux ORPHA:779
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Steatorrhea ORPHA:309108
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Neuroblas... ORPHA:440437
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... ORPHA:97290
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation ORPHA:115
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cowden Syndrome 5
High palate, Breast carcinoma, Furrowed tongue, Transitional cell carcinoma of the bladder, Colon... OMIM:615108
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Cowden Syndrome 6
High palate, Breast carcinoma, Fibroadenoma of the breast, Furrowed tongue, Transitional cell car... OMIM:615109
Currarino Syndrome
Hypoplasia of penis, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Sacrococcygeal terat... ORPHA:1552
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Barrett esophagus OMIM:611376
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ova... ORPHA:314478
Eosinophilic Gastroenteritis
Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Hematochezia, Protein-losi... ORPHA:2070
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Genital ulcers OMIM:616744
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Harrod Syndrome
High palate, High, narrow palate, External genital hypoplasia, Hypospadias, Malrotation of small ... OMIM:601095
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Hematoche... ORPHA:913
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Refractory Celiac Disease
Malabsorption, Lymphoma, Villous atrophy, Protein-losing enteropathy, Jejunitis ORPHA:398063
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Fat malabsorption OMIM:200100
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... ORPHA:424016
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Serkal Syndrome
Abnormal penis morphology, Sex reversal, Malrotation of small bowel, Hypospadias ORPHA:139466
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm of the liver, Neoplasm, Uterine neoplasm, Prostate cancer, Neoplasm of... ORPHA:2126
Protein-losing enteropathy, Macroglossia ORPHA:79320
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Feingold Syndrome
Annular pancreas, Duodenal atresia, Esophageal atresia ORPHA:1305
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Cowden Syndrome
High palate, Furrowed tongue, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopl... ORPHA:201
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Papillary renal cell carcinoma, Follicular thyroid carcinoma, Colon ... ORPHA:319487
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Duodenal stenosis ORPHA:2547
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia ORPHA:209964
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Neoplasm, Cleft palate, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelo... ORPHA:1052
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Diffuse leiomyomatosis, Gastroesophageal reflux, Uterine neoplasm, Morpholog... ORPHA:1018
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Fanconi Anemia, Complementation Group B
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Hypogona... OMIM:300514
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Inflammation of the large intestine OMIM:618108
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Bicornuate ut... ORPHA:2059
Microform Holoprosencephaly
Duodenal atresia, Hypoplasia of penis, Cleft palate, Hemangioma, Panhypopituitarism, Ambiguous ge... ORPHA:280200
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage, Cavernous hemangioma, Viscer... ORPHA:774
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... ORPHA:273
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Bilateral cryptorchidism, Neoplasm of the skin, Meckel diverticulum OMIM:616395
Abnormal fallopian tube morphology, Abnormality of the ovary, Duodenal ulcer, Cervicitis ORPHA:722
Aicardi Syndrome
Malabsorption, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal reflux, Multiple lip... ORPHA:50
Intellectual Developmental Disorder, Autosomal Dominant 53
Duodenal atresia, Micropenis, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility OMIM:617798
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Submucous cleft hard palate OMIM:619227
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Protein-losing enteropathy ORPHA:95428
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematoc... OMIM:175050
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Fat malabsorption ORPHA:79302
Crouzon Syndrome
Dysgerminoma OMIM:123500
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... ORPHA:139411
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Bannayan-Riley-Ruvalcaba syndrome
High palate, Lipoma, Intussusception, Hemangioma, Multiple lipomas, Hematochezia, Meningioma, Ham... OMIM:153480
Radiation Proctitis
Rectal fistula, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Hemato... ORPHA:70475
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Atypical Werner Syndrome
Ovarian neoplasm, Renal neoplasm, Neoplasm of the small intestine, Neoplasm of the lung, Neoplasm... ORPHA:79474
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Neuroblastoma, Intestinal malrotation, Pancreatic hypoplasia, Abnormal reproductive system morpho... ORPHA:1666
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Protein-losing enteropathy OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption OMIM:211600
Kennerknecht syndrome
High palate, Agonadism, Malrotation of colon, Hypoplasia of the uterus OMIM:600908
Whim Syndrome
Papilloma, Cutaneous melanoma, Cervix cancer, Abnormality of the small intestine, Verrucae, Parot... ORPHA:51636
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Glandular hypospadias, Gastritis, Shawl scrotum ORPHA:2575
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Stromme Syndrome
Jejunal atresia, Duodenal atresia, Intestinal malrotation, Cleft palate OMIM:243605
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Colitis OMIM:209920
Multiple Endocrine Neoplasia Type 1
Melena, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin... ORPHA:652
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin con... ORPHA:90362
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... ORPHA:512
Proteus Syndrome
Neoplasm, Lymphangioma, Ovarian neoplasm, Lipoma, Exostoses, Macroorchidism, Neoplasm of the cent... ORPHA:744
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Steatorrhea OMIM:607765
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Oculoskeletodental Syndrome
Cryptorchidism, Protein-losing enteropathy, Macroglossia OMIM:618440
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Duodenal atresia, Cryptorchidism, Micropha... OMIM:603467
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Duodenal stenosi... ORPHA:2470
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Gastrointestinal atresia, Jejunal atresia, Esophageal atresia ORPHA:391641
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Lymphoproliferative disorder, Inflammation of the large intestine, Lymphoma, Villous atr... OMIM:614700
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:164280
Multiple Endocrine Neoplasia, Type Iib
High palate, Medullary thyroid carcinoma, High, narrow palate, Pheochromocytoma, Colonic divertic... OMIM:162300
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Abnormal jejunum morphology ORPHA:449280
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Micropenis, Abnormal fallopian tube morphology, Abnormality of the uterus, Protein-l... ORPHA:1655
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Gastric varix ORPHA:64743
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Lymphocytic infiltration of the colorectal mucosa OMIM:616100
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Anal stenosis, Rect... OMIM:115470
Visceral Myopathy 1
Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microcolon, Aganglionic megacolon OMIM:155310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Cleft palate, Micropenis, Protein-losing enteropathy, Pancreatic lymphangiectasis, C... OMIM:235255
Storm Syndrome
Fat malabsorption OMIM:185069
Waardenburg Syndrome
Abnormal vagina morphology, Aplasia/Hypoplasia of the colon, Abnormality of the gastrointestinal ... ORPHA:3440
Fg Syndrome Type 1
High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Small pituitary gland, ... ORPHA:93932
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... ORPHA:99880
Mosaic Variegated Aneuploidy Syndrome 2
Duodenal atresia, Decreased response to growth hormone stimulation test OMIM:614114
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Fryns Syndrome
Anal atresia, Duodenal atresia, Bicornuate uterus, Cleft palate, Bifid scrotum, Intestinal malrot... OMIM:229850
Intussusception OMIM:147710
Wolfram Syndrome
Malabsorption, Male hypogonadism, Hypogonadism, Gastrointestinal hemorrhage, Gastric ulcer ORPHA:3463
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... ORPHA:143
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Miller-Dieker Lissencephaly Syndrome
Duodenal atresia, Cryptorchidism, Cleft palate OMIM:247200
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Protein-losing enteropathy, Hematochezia OMIM:618183
Distal Monosomy 12Q
Annular pancreas, Duodenal atresia, Pituitary adenoma, High, narrow palate, Micropenis, Unilatera... ORPHA:96149
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Villous atrophy OMIM:304790
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Dyrk1A-Related Intellectual Disability Syndrome
Duodenal atresia, Gastroesophageal reflux, Micropenis, Hypospadias, Pyloric stenosis, Breast hypo... ORPHA:464306
Focal Dermal Hypoplasia
Giant cell tumor of bone, Papilloma, Duodenal atresia, Gastroesophageal reflux ORPHA:2092
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Microga... OMIM:156810
Diets-Jongmans Syndrome
Hypospadias, Duodenal atresia, Cryptorchidism OMIM:618846
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Jacobsen Syndrome
Ectopic anus, Annular pancreas, Duodenal atresia, Intestinal malrotation, Pyloric stenosis, Abnor... ORPHA:2308
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Jejunal atresia, Microcolon, Volvulus OMIM:609313
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Meckel diverticulum OMIM:602613
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Bicornuate uterus, Cleft palate, Intestinal mal... OMIM:265380
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Cleft palate, Micropenis, Hypospadias, Urethral stricture, Anal stenos... OMIM:617063
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorc... OMIM:235510
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine OMIM:200995
Beckwith-Wiedemann Syndrome
Neoplasm, Neuroblastoma, Hepatoblastoma, Cleft palate, Macroglossia, Large intestinal polyposis, ... ORPHA:116
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Increased intestinal transit time OMIM:619377
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Duodenal atresia, Gastroesophageal reflux, Micropenis, Hypospadias, Posterior pituitary hypoplasi... ORPHA:464311
Holoprosencephaly 13, X-Linked
Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... ORPHA:2538
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Cholesteatoma, Duodenal ulcer, Villous atro... OMIM:619381
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Annular pancreas, Duodenal atresia, Gastroesophageal reflux, Hypospadias, Furrowed t... OMIM:616975
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Xerostomia, Central diabetes insipidus, Atrophic gastrit... ORPHA:227990
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Duodenal atresia, Cryptorchidism, Microphallus ORPHA:468631
Ring Chromosome 12 Syndrome
High, narrow palate, Cryptorchidism, Hemangioma, Glandular hypospadias, Breast hypoplasia, Uterin... ORPHA:1439
Anal atresia, Duodenal atresia ORPHA:63259
Williams Syndrome
Cholelithiasis, Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Hypop... ORPHA:904
Townes-Brocks Syndrome 1
Anal atresia, Duodenal atresia, Gastroesophageal reflux, Bifid scrotum, Tracheoesophageal fistula... OMIM:107480
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Intussusception, Colonic stenosis, Rectal prolapse, Intestinal perforation ORPHA:90038
Nmda Receptor Encephalitis
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... ORPHA:217253
Syndromic Diarrhea
Colitis, Gastritis, Hepatoblastoma, Hypoplasia of the thymus, Villous atrophy ORPHA:84064
Autoimmune Polyendocrinopathy Type 3
Thymoma, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypoparathyroidism, Central diabe... ORPHA:227982
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Villous atrophy, Abno... ORPHA:391487
Tarp Syndrome
Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cryptorchidism ORPHA:2886
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma ORPHA:221
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Villous atrophy, Biliary hyperplasia ORPHA:567983
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Inflammation of the large intestine, Perianal abscess, Esophagitis, A... OMIM:301074
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Urethral diverticulum, Small bowel diverticula ORPHA:90349
Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, Enterocolitis, Hematemes... ORPHA:73263
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Esophageal varix, Fat malabsorption, Protein-losing enteropat... ORPHA:731
Isolated Biliary Atresia
Bile duct proliferation, Atretic gallbladder, Hypopituitarism, Fat malabsorption ORPHA:30391
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Fanconi Anemia
High palate, Anal atresia, Neoplasm, Absent testis, Bicornuate uterus, Cleft palate, Abnormal pre... ORPHA:84
Fraser Syndrome 1
Bicornuate uterus, Cleft palate, Micropenis, Hypospadias, Abnormality of the small intestine, Cli... OMIM:219000
Autoimmune Lymphoproliferative Syndrome
Burkitt lymphoma, Colitis, Gastritis, Thyroid carcinoma, Hodgkin lymphoma, Fibroadenoma of the br... ORPHA:3261
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Precocious puberty, Bre... ORPHA:97685
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Steatorrhea, Abnormality of the gastrointe... ORPHA:811
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Cleft palate ORPHA:2953
Coffin-Siris Syndrome 1
High palate, Intussusception, Cleft palate, Intestinal malrotation, Hemangioma, Hypospadias, Duod... OMIM:135900
Immunodeficiency 87 And Autoimmunity
Hodgkin lymphoma, Increased fecal calprotectin level, Cleft palate, Necrotizing enterocolitis, Pe... OMIM:619573
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Villous atrophy, Steatorrhea OMIM:212065
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Malabsorption, Steatorrhea OMIM:557000
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Meckel diverticulum, Anteriorly placed anus ORPHA:1708
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia OMIM:270100
Trisomy 8P
Annular pancreas, Neuroblastoma, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvul... ORPHA:264450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Hiatus hernia, Cleft palate, Intestinal malrotation, Abnormal duodenum morphology, C... OMIM:601776
Down Syndrome
Anal atresia, Macroglossia, Myeloproliferative disorder, Acute megakaryocytic leukemia, Protrudin... OMIM:190685
Bloom Syndrome
Recurrent gastroenteritis, Esophageal neoplasm, Neoplasm of the colon, Malignant genitourinary tr... ORPHA:125
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia OMIM:306955
Charge Syndrome
Hypoparathyroidism, Anal atresia, Duodenal atresia, Labial hypoplasia, External genital hypoplasi... OMIM:214800
Hypoplasia of the ovary, Gastroesophageal reflux, Bicornuate uterus, Bifid uvula, Hypoplastic nip... ORPHA:79328
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Meconium ileus, Gastritis, Hypospadias, Shawl scrotum OMIM:219721
Trichohepatoenteric Syndrome 1
Hypospadias, Villous atrophy, Bifid uvula OMIM:222470
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Esophageal varix, Gastric ulcer ORPHA:2072
Fat malabsorption, Steatorrhea ORPHA:14
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Aplasia of the uterus, Facial capillary hemangioma, Pancreatic cysts, Meckel divert... OMIM:274000
Neoplasm of the rectum, Neoplasm of the colon, Prostate neoplasm ORPHA:556
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Hypospadias, Cholesteatoma, Pancreatic hypoplasia, Protein-l... OMIM:619991
Wolf-Hirschhorn Syndrome
Precocious puberty, Gastroesophageal reflux, Cleft palate, Hemangioma, Malrotation of small bowel... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Anal atresia, Narrow palate, Hepatoblastoma, Cleft palate, Macroglossia, Intestinal malrotation, ... OMIM:312870
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... OMIM:619472
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348
Myhre Syndrome
Severe short stature, Intrauterine growth retardation ORPHA:2588
Myhre Syndrome
Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature OMIM:139210
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate ORPHA:91387


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 Smad4

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 Smad4.

No publications found that use IMPC mice or data for Smad4.

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MGI Allele Allele Type Produced
Smad4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Smad4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smad4em1(IMPC)Ccpcz Exon Deletion Mice
Smad4tm40156(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smad4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Smad4tm40156(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smad4tm291028(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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