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Gene: Smad4 MGI:894293

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SMAD family member 4
Synonyms:
Madh4,  Smad 4,  Dpc4,  DPC4,  D18Wsu70e

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, 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
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... 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
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Gastric Cancer
Stomach cancer OMIM:613659
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Breast intraductal papi... OMIM:617100
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Li-Fraumeni Syndrome
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... ORPHA:524
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
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
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Thyroid carcino... ORPHA:157794
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Jejunal Atresia
Jejunal atresia OMIM:243600
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hamartomatous polyposis,... ORPHA:251992
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the ... ORPHA:83469
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... ORPHA:388
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
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma ORPHA:99977
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Macroglossia, Glossitis, Ovarian neoplasm, Neoplasm... ORPHA:2221
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ... ORPHA:210548
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... ORPHA:873
Lynch Syndrome
Neoplasm of the skin, Colon cancer, Neoplasm of the skeletal system, Neoplasm of the rectum, Hema... ORPHA:144
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Cowden Syndrome 1
Varicocele, Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrow... OMIM:158350
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Lymphoma ORPHA:100025
Cowden Syndrome 7
Trichilemmoma, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Papillary t... OMIM:616858
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma ORPHA:99976
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neoplasm, Hama... ORPHA:2930
Diarrhea 9
Villous atrophy OMIM:618168
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Ovarian carcinoma, Melanoma, Neoplasm o... ORPHA:1333
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Hepatoblastoma, Osteoma, ... ORPHA:261584
Duodenal Atresia
Duodenal atresia OMIM:223400
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Werner Syndrome
Gastrointestinal carcinoma, Neoplasm of the oral cavity, Cutaneous melanoma, Meningioma, Acral le... ORPHA:902
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Chylous Ascites
Abnormal intestine morphology, Neoplasm ORPHA:1160
Neuroendocrine Neoplasm Of Appendix
Appendiceal mucinous neoplasm, Mechanical ileus, Adrenocorticotropic hormone excess, Ileal adenoc... ORPHA:100079
Gastrointestinal Stromal Tumor
Neurofibroma, Gastrointestinal stroma tumor, Dysphagia, Intestinal obstruction OMIM:606764
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Breast carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n... ORPHA:65285
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Cap Polyposis
Atrophic gastritis, Hematochezia, Colorectal polyposis ORPHA:160148
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Small Bowel Atresia
Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia ORPHA:1201
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Myelodysplasia, Duodenal atresia OMIM:617784
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Neoplasm of the pancreas, Mult... OMIM:175200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Apert Syndrome
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate ORPHA:87
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Basal Cell Nevus Syndrome 1
Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carcinoma, O... OMIM:109400
Mccune-Albright Syndrome
Intestinal polyposis, Pituitary adenoma OMIM:174800
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Colon cancer, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillary thyroid carcin... ORPHA:97290
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp ORPHA:457485
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Brain ne... ORPHA:370348
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Familial Melanoma
Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas ORPHA:618
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Intussusc... OMIM:112200
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Furrowed tongue, High pala... OMIM:615108
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Currarino Syndrome
Bifid scrotum, Abnormal intestine morphology, Male pseudohermaphroditism, Hypoplasia of penis, Hy... ORPHA:1552
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Cowden Syndrome 6
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast... OMIM:615109
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Abnormal endometrium mor... ORPHA:314478
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Genital ulcers, Ileal ulcer OMIM:616744
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption ORPHA:309108
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Crouzon Syndrome
High palate, Dysgerminoma OMIM:123500
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... ORPHA:319487
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal ORPHA:139466
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal obstructio... ORPHA:913
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Uterine neoplasm, Vaginal neoplasm, Abnormal gastrointestinal tract morp... ORPHA:1018
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Duodenal stenosis ORPHA:2547
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Lymphoma, Jejunitis ORPHA:398063
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Fanconi Anemia, Complementation Group B
Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia, Hyperg... OMIM:300514
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Bilateral cryptorchidism, Meckel diverticulum, Pyloric stenosis OMIM:616395
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Villous atrophy OMIM:600955
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, Ectopic a... ORPHA:2059
Microform Holoprosencephaly
Panhypopituitarism, Hemangioma, Ambiguous genitalia, Hypoplasia of penis, Duodenal atresia, Cleft... ORPHA:280200
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, A... ORPHA:1199
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Hamartomatous polyposis, Juvenile gastrointestinal poly... OMIM:175050
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Intest... ORPHA:273
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Hypoplasminogenemia
Abnormality of the ovary, Duodenal ulcer, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia OMIM:617798
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Ambiguous genitalia, M... OMIM:257300
Aicardi Syndrome
Gastroesophageal reflux, Intestinal polyposis, Hiatus hernia, Multiple lipomas, Hepatoblastoma, C... ORPHA:50
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Cryptorchidism OMIM:608104
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Whim Syndrome
Verrucae, Cutaneous melanoma, Parotitis, Abnormal small intestine morphology, Papilloma, Cervix c... ORPHA:51636
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Abnormal reproductive system ... ORPHA:1666
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Hypogonadism, Neoplasm of the thyr... ORPHA:79474
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... OMIM:147060
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Gastritis, Hypospadias, Shawl scrotum ORPHA:2575
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Stromme Syndrome
Intestinal malrotation, Duodenal atresia, Cleft palate, Jejunal atresia OMIM:243605
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Radiation Proctitis
Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro... ORPHA:70475
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tu... ORPHA:139411
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl... ORPHA:512
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Acute megakaryocytic leu... ORPHA:870
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia, Cryptorchidism OMIM:618440
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation ORPHA:79302
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Microphallus, Duodenal atresia, Cryptorchi... OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption OMIM:211600
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Aplasia/Hypoplasi... ORPHA:2470
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphoma, Lymphocytic infiltration of th... ORPHA:436159
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption, Acholic stools OMIM:607765
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Medulloblastoma
Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor, Cerebellar medulloblastoma, Ne... ORPHA:616
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Proteus Syndrome
Rib exostoses, Long penis, Thymus hyperplasia, Capillary hemangioma, Meningioma, Exostosis of the... ORPHA:744
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Pheochromocytoma, Ganglioneuroma, Aganglionic megacolon... OMIM:162300
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Intussusception
Intussusception OMIM:147710
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Cryptorchidi... ORPHA:93932
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroi... ORPHA:99880
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Fryns Syndrome
Ectopic pancreatic tissue, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Cryptorchi... OMIM:229850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Micropenis, High palate,... OMIM:235255
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cryptorchidism, Cardiac fibroma, Hypogonadotropic hypogona... ORPHA:377
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction, Aganglionic megaco... ORPHA:3440
Parathyroid Carcinoma
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathy... ORPHA:143
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Lymphoma, Villous atrophy, Colitis, Lymp... OMIM:614700
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:614114
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption ORPHA:71
Feingold Syndrome 1
Annular pancreas, Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestina... OMIM:164280
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Duodenal atresia, Cleft palate OMIM:247200
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Esophageal atresia, Micro... ORPHA:96149
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplasia, Microp... ORPHA:464306
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Focal Dermal Hypoplasia
Gastroesophageal reflux, Papilloma, Duodenal atresia, Giant cell tumor of bone ORPHA:2092
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception OMIM:614162
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Cryptorchidism OMIM:618183
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy OMIM:209920
Mednik Syndrome
Microcolon, Volvulus, Jejunal atresia OMIM:609313
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Diets-Jongmans Syndrome
Hypospadias, Duodenal atresia, Cryptorchidism OMIM:618846
Jacobsen Syndrome
Annular pancreas, Intestinal malrotation, Cryptorchidism, Ectopic anus, Abnormality of the anus, ... ORPHA:2308
Beckwith-Wiedemann Syndrome
Macroglossia, Neoplasm, Nephroblastoma, Adrenocortical carcinoma, Facial hemangioma, Hepatoblasto... ORPHA:116
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorchidism, Narrow palate, Rectal pr... OMIM:235510
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis OMIM:200995
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... OMIM:265380
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Cryptorchidism, Posterior pituitary hypoplasia, Micropenis, Hypospadias,... ORPHA:464311
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Villous atrophy, Crohn's disease, Cholesteatoma, Gastritis, B-cell lymphoma,... OMIM:619381
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef... OMIM:301043
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Fat malabsorption ORPHA:79303
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryptorchidism, High palate, Hypospad... OMIM:616975
Wolfram Syndrome
Hypogonadism, Gastrointestinal hemorrhage, Male hypogonadism, Gastric ulcer ORPHA:3463
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Xerostomia, Anterior pituitary dysgenesis, Celiac disease, Hypergona... ORPHA:227990
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate OMIM:311900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Hypospadias, Duodenal atresia, Cryptorchidism ORPHA:468631
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception OMIM:619377
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hemangioma, Uterin... ORPHA:1439
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Colonic stenosis, Acute colitis, Intestinal perforation, Intussusception ORPHA:90038
Williams Syndrome
Precocious puberty, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, A... ORPHA:904
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Anoperineal fistula, Chronic gastritis, Esophagitis, Periana... OMIM:301074
Iniencephaly
Anal atresia, Duodenal atresia ORPHA:63259
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... ORPHA:217253
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Ileitis, Gastritis, Enterocolitis, ... ORPHA:73263
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Xerostomia, Anterior pituitary dysgenesis, Autoimmune hypoparathyroi... ORPHA:227982
Tarp Syndrome
Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft palate ORPHA:2886
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia OMIM:270100
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Biliary hyperplasia, Hepatoblastoma, Cho... ORPHA:731
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal small intestine morphology, Cryptorchidism, Abnormality of the anu... OMIM:219000
Fanconi Anemia
Meckel diverticulum, Abnormality of the uterus, Aplasia/Hypoplasia of the uvula, Duodenal stenosi... ORPHA:84
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cryptorchidism, Cleft palate ORPHA:2953
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,... OMIM:107480
Mosaic Trisomy 16
Hypospadias, Abnormality of the gastrointestinal tract, Meckel diverticulum, Anteriorly placed anus ORPHA:1708
Meier-Gorlin Syndrome 7
Anal stenosis, Clitoral hypertrophy, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, C... OMIM:617063
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Hemangioma, ... OMIM:135900
Isolated Biliary Atresia
Hypopituitarism, Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation ORPHA:30391
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid adenoma, T-cell lymphoma, Fibroadenoma of the breast, Thyroid carci... ORPHA:3261
Bloom Syndrome
Neoplasm of the skin, Gastroesophageal reflux, Lymphoma, Malignant genitourinary tract tumor, Neo... ORPHA:125
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Abnormal intestine morphology, Oropharyngeal squamous cell carcinoma, Enterocoli... ORPHA:391487
Syndromic Diarrhea
Villous atrophy, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Colitis ORPHA:84064
Autosomal Recessive Cutis Laxa Type 1
Small bowel diverticula, Pyloric stenosis ORPHA:90349
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia OMIM:306955
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, High palate,... OMIM:601776
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:264450
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy ORPHA:567983
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Perianal dermatitis, Hodgkin lymphoma, Increased fecal calpr... OMIM:619573
17Q11 Microdeletion Syndrome
Precocious puberty, Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neur... ORPHA:97685
Down Syndrome
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Macro... OMIM:190685
Charge Syndrome
Anal stenosis, Parathyroid hypoplasia, Hypoplastic male external genitalia, Decreased response to... OMIM:214800
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Shwachman-Diamond Syndrome
Leukemia, Pancreatic hypoplasia, Hypopituitarism, Decreased response to growth hormone stimulatio... ORPHA:811
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia ORPHA:43393
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Gastric ulcer, Esophageal varix ORPHA:2072
Malakoplakia
Neoplasm of the colon, Neoplasm of the rectum, Prostate neoplasm ORPHA:556
Dermatomyositis
Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Dysphagia, Breast carcinoma ORPHA:221
Genitopatellar Syndrome
Small scrotum, Malrotation of small bowel, Anal stenosis, Clitoral hypertrophy, Anteriorly placed... OMIM:606170
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Villous atrophy, Pancreatic fibrosis OMIM:557000
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Facial capillary hemangioma, Aplasia of the uterus, Pancreatic cysts, Cleft ... OMIM:274000
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Neur... ORPHA:99889
Liver Disease, Severe Congenital
Protein-losing enteropathy, Pancreatic hypoplasia, Chronic gastritis, Cholesteatoma, Biliary hype... OMIM:619991
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, Aplasia ... OMIM:194190
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Plague
Inflammation of the large intestine, Ileitis, Enterocolitis, Hematemesis, Glossitis ORPHA:707
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Supernumerary nipple, Intes... OMIM:312870
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348
Myhre Syndrome
Severe short stature, Intrauterine growth retardation ORPHA:2588
Myhre Syndrome
Short stature, Intrauterine growth retardation, Birth length less than 3rd percentile OMIM:139210
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate ORPHA:91387

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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