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
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis OMIM:175450
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Gastric Cancer
Stomach cancer OMIM:613659
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Primary peritoneal carcinoma, Ovarian neoplasm, Melan... ORPHA:145
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Lynch Syndrome 5
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... OMIM:614350
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Colon cancer OMIM:619101
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... ORPHA:263665
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Jejunal Atresia
Jejunal atresia OMIM:243600
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... ORPHA:440437
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... ORPHA:83469
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... ORPHA:144
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory sys... ORPHA:2221
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Lymphoma, Malabsorption ORPHA:100025
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... ORPHA:247806
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Gardner Syndrome
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... ORPHA:79665
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... OMIM:158350
Duodenal Atresia
Duodenal atresia OMIM:223400
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Gast... ORPHA:2930
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g... ORPHA:733
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Diarrhea 9
Villous atrophy OMIM:618168
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... ORPHA:206484
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Brea... ORPHA:1333
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian carcinoma, Narrow palate, Ovarian neoplasm OMIM:617883
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast ORPHA:618
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the rectum, Neoplasm... ORPHA:424019
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis ORPHA:289596
Chylous Ascites
Neoplasm, Abnormal intestine morphology ORPHA:1160
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Adreno... ORPHA:100079
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation ORPHA:1201
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... OMIM:615710
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... OMIM:613762
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Myelodysplasia, Duodenal atresia OMIM:617784
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M... OMIM:109400
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula ORPHA:87
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Steatorrhea ORPHA:309108
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Spinal cord tumor, Ovarian neoplasm... ORPHA:370348
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp ORPHA:457485
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... OMIM:175200
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Mccune-Albright Syndrome
Intestinal polyposis OMIM:174800
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl... OMIM:112200
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism OMIM:136680
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Currarino Syndrome
Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit... ORPHA:1552
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer, Genital ulcers OMIM:616744
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption OMIM:600955
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Crouzon Syndrome
High palate, Dysgerminoma OMIM:123500
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Refractory Celiac Disease
Villous atrophy, Malabsorption, Lymphoma, Protein-losing enteropathy, Jejunitis ORPHA:398063
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Fat malabsorption OMIM:200100
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Macroglossia, Protein-losing enteropathy ORPHA:79320
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal ORPHA:139466
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
Feingold Syndrome
Esophageal atresia, Annular pancreas, Duodenal atresia ORPHA:1305
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Duodenal stenosis ORPHA:2547
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V... ORPHA:1018
Cowden Syndrome 6
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... OMIM:615109
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym... ORPHA:1052
Cowden Syndrome 5
Colonic diverticula, Subcutaneous lipoma, Breast carcinoma, Furrowed tongue, Hamartomatous polypo... OMIM:615108
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hypogonadism, Micr... OMIM:300514
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... ORPHA:109
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum, Neoplasm of the skin OMIM:616395
Microform Holoprosencephaly
Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Hemangioma, Panhypopituitarism, Duodenal ... ORPHA:280200
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Ectopic... ORPHA:2059
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstruction, Choroidal melanoma, Decreas... ORPHA:273
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Protein-losing enteropathy ORPHA:95428
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... ORPHA:1199
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia OMIM:617798
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation ORPHA:79302
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Gastroesophageal reflux, Hepato... ORPHA:50
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Cleft palate, Micropenis,... OMIM:257300
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption OMIM:211600
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Neuroblasto... ORPHA:1666
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Whim Syndrome
Abnormal small intestine morphology, Papilloma, Cutaneous melanoma, Cervix cancer, Verrucae, Paro... ORPHA:51636
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Protein-losing enteropathy OMIM:608104
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Atypical Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm of the breast, Neo... ORPHA:79474
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Glandular hypospadias, Hypospadias, Shawl scrotum ORPHA:2575
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia OMIM:243605
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... ORPHA:210122
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Lymphoma, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... ORPHA:436159
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy, Cryptorchidism OMIM:618440
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality of the uterus,... ORPHA:2470
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test, Duodenal atr... OMIM:603467
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... ORPHA:744
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... ORPHA:90362
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, High palate, Abnormality of the uterus, Protein-losi... ORPHA:1655
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... ORPHA:512
Abnormal jejunum morphology ORPHA:449280
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, P... OMIM:162300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Intussusception OMIM:147710
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptor... ORPHA:93932
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Hypospad... OMIM:229850
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Primary h... ORPHA:99880
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... ORPHA:3440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropath... OMIM:235255
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:614114
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Primary h... ORPHA:143
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Gastric ulcer, Hypogonadism, Male hypogonadism ORPHA:3463
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Lymphoma, Inflammation of the ... OMIM:614700
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Duodenal atresia OMIM:247200
Distal Deletion 12Q
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Pituitary a... ORPHA:96149
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Focal Dermal Hypoplasia
Giant cell tumor of bone, Gastroesophageal reflux, Papilloma, Duodenal atresia ORPHA:2092
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Gastroesophageal re... ORPHA:464306
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon OMIM:609313
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Jacobsen Syndrome
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... ORPHA:2308
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis OMIM:200995
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,... OMIM:265380
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Cryptorchidism, Protein-losing enteropathy OMIM:618183
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... OMIM:235510
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Cryptorchidism, Posterior pituitary hypoplasia, Gastroesophageal reflux, Micropenis,... ORPHA:464311
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, B-cell lymphoma, Colitis, Anoperineal fistula, Crohn'... OMIM:619381
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... OMIM:301043
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Furrowed tongue, Gastroesophageal reflux, High palate, Annular pancr... OMIM:616975
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Hypospadias, Microphallus, Duodenal atresia ORPHA:468631
Ring Chromosome 12 Syndrome
High, narrow palate, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Breast... ORPHA:1439
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Isolated Biliary Atresia
Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism ORPHA:30391
Williams Syndrome
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Peptic ulcer, Malabsorpt... ORPHA:904
Anal atresia, Duodenal atresia ORPHA:63259
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis ORPHA:90038
Adenomatous colonic polyposis ORPHA:616
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Inflammation of the large intestine, Colitis, Anoperineal fi... OMIM:301074
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma ORPHA:221
Tarp Syndrome
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules ORPHA:2886
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Gastrointestinal hemorrhage, Gastritis, Hematological neoplasm, Hematemesis, Enterocolitis, Hemat... ORPHA:73263
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Thymoma, Anterior... ORPHA:227990
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... ORPHA:731
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... ORPHA:227982
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... OMIM:219000
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Fanconi Anemia
Aganglionic megacolon, Hypospadias, Myelodysplasia, Abnormal preputium morphology, Aplasia/Hypopl... ORPHA:84
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Macroglossia, Large intestinal polyposis, Cleft palate ORPHA:116
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Acute myeloid leukemia, Hypopituitarism, Decreased res... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T-cell lymphoma... ORPHA:3261
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... OMIM:107480
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Hypospadias ORPHA:1708
Meier-Gorlin Syndrome 7
Anal stenosis, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis... OMIM:617063
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,... OMIM:135900
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia OMIM:270100
Syndromic Diarrhea
Villous atrophy, Gastritis, Colitis, Hypoplasia of the thymus, Hepatoblastoma ORPHA:84064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Enterocolitis, Abno... ORPHA:391487
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy ORPHA:567983
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Micropenis, Aplasia/H... ORPHA:264450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia OMIM:306955
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... OMIM:601776
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... OMIM:190685
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... OMIM:619573
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Hypogonadotropic hypogonadism, Decreased response to growth ho... OMIM:214800
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Pancreatic fibrosis, Steatorrhea OMIM:557000
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Gastric ulcer, Esophageal varix, Cholelithiasis ORPHA:2072
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Malrot... OMIM:606170
Fat malabsorption, Steatorrhea ORPHA:14
Thrombocytopenia-Absent Radius Syndrome
Facial capillary hemangioma, Pancreatic cysts, Cleft palate, Aplasia of the uterus, Meckel divert... OMIM:274000
Liver Disease, Severe Congenital
Chronic gastritis, Hypospadias, Biliary hyperplasia, Hydrocele testis, Protein-losing enteropathy... OMIM:619991
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro... OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryp... OMIM:312870
Viss Syndrome
Exostosis of the external auditory canal, Chronic gastritis, Duodenitis, Intestinal malrotation, ... OMIM:619472
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348
Myhre Syndrome
Intrauterine growth retardation, Severe short stature ORPHA:2588
Myhre Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, 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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