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Gene: Raph1 MGI:1924550

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Gene Summary

Name:
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Synonyms:
lamellipodin,  Lpd,  9430025M21Rik,  C730009O10Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Raph1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Raph1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Raph1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI

View all 57 images

Raph1tm1b(EUCOMM)Wtsi
TS20 oral cavity, HET, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
TS20 skin, HET, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
TS20 eye, HET, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI
Raph1tm1b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Male, WTSI
Raph1tm1b(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Raph1tm1b(EUCOMM)Wtsi
abnormal placement of pupils, HOM, Female, WTSI

Human diseases caused by Raph1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Raph1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... OMIM:613860
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Desmoid Disease, Hereditary
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Angioedema, Hereditary, 3
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting OMIM:610618
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... ORPHA:424019
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia,... OMIM:300635
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Constrictive pericarditis, Abd... ORPHA:90363
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... OMIM:615767
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Decreased... OMIM:619281
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Hemangioma, Volvulus, Intussuscepti... OMIM:112200
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... OMIM:209920
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... OMIM:619437
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis,... OMIM:619164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Pedal edema, Increased circulating IgG l... ORPHA:98813
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Angioedem... OMIM:106100
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Autoimmune thrombocytopenia, Recurren... OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... ORPHA:100050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Skin rash, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:275
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Polyhydramnios, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis... OMIM:243150
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... OMIM:605258
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Splenomegaly, Recurrent upper respiratory tract inf... OMIM:613101
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonit... ORPHA:90038
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... OMIM:613960
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... OMIM:116920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Lymphaden... ORPHA:331235
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Sepsis, Neutropenia, Disseminated molluscum contagiosum, Bronchiectas... OMIM:614868
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 40
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, T lymph... OMIM:616433
Immunodeficiency, Common Variable, 2
Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Recurrent bacterial infect... OMIM:240500
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... ORPHA:79076
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... ORPHA:586
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Recurrent ear infections... ORPHA:486
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... OMIM:615468
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency, Common Variable, 13
Pancytopenia, Polyhydramnios, Decreased circulating antibody level, Acute lymphoblastic leukemia,... OMIM:616873
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o... OMIM:607594
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... OMIM:608106
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Sple... OMIM:618935
Cystic Fibrosis
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Recurrent pneumoni... OMIM:219700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colit... ORPHA:37042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia... OMIM:617718
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, BCGosis, Ch... OMIM:619652
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Rectal prolapse, ... OMIM:235510
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent u... OMIM:616005
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ... ORPHA:540
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... ORPHA:793
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infe... ORPHA:391487
Whim Syndrome
Sinusitis, Severe periodontitis, Lymphadenitis, Sepsis, Abnormal neutrophil morphology, Papilloma... ORPHA:51636
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Dubowitz Syndrome
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... ORPHA:235
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, Neutropenia, Recurren... OMIM:614172
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... OMIM:301000
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcino... OMIM:158350
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Thy... ORPHA:3261
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma OMIM:612591
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ... ORPHA:99867
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Neutr... OMIM:606843
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Blo... ORPHA:67
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Dehydration, Paralytic ileus, Bloody diarrhea,... ORPHA:810
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chronic diarrhea,... OMIM:614576
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Leukoc... OMIM:615895
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab... OMIM:616809
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... ORPHA:169090
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Edema, Abdominal pain, Abnorma... ORPHA:263665
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feed... OMIM:613177
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Sepsi... OMIM:617475
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia OMIM:610738
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... ORPHA:144
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Edema, Intestinal perforation, Secretory diarr... ORPHA:544482
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... OMIM:301220
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, B-cell lymphoma, Autoimmune thro... OMIM:102700
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Diar... OMIM:603554
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Pure red c... OMIM:613179
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Nausea and vomiting, Skin rash, Abdominal pain, Pericardial effusion, Meningitis, A... ORPHA:36412
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios ORPHA:3016
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... OMIM:619573
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... ORPHA:329971
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Gastroparesis, Abdominal pa... OMIM:155310
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79405
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... ORPHA:48435
Fanconi Anemia, Complementation Group O
Rectal atresia, Anal atresia OMIM:613390
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra... ORPHA:2241
Mirage Syndrome
Recurrent urinary tract infections, Myelodysplasia, Thrombocytopenia, Esophageal stricture, Chron... OMIM:617053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Polyhydramnios, Feeding difficulties in infan... OMIM:301056
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... OMIM:612840
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79406
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Eczema, Polyhydramnios, Rectal prolapse, Feeding difficulties... OMIM:617157
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Polyhydramnios, Jej... ORPHA:436252
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infectio... OMIM:612783
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79411
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia, Gout, Recurrent bacterial infections, Inflammation of the large intest... OMIM:232220
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Ab... ORPHA:3260
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal ab... OMIM:612541
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Squamous cell carcinoma, Recur... ORPHA:182
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody dia... ORPHA:84064
Plague
Glossitis, Chapped lip, Edema, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious... ORPHA:707
Leprechaunism
Abdominal distention, Rectal prolapse, Increased circulating renin level, Megarectum ORPHA:508
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivit... ORPHA:309031
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infection... OMIM:232240
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom... ORPHA:79409
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Rectal prolapse, Osteoarthritis, Joint swelling, Blepharochalasis, Chronic constip... ORPHA:287
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Sepsis, Microcolon, Polyhydramnios OMIM:619362
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... OMIM:608233
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Elevated circulating creat... OMIM:201475
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... ORPHA:244
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Chédiak-Higashi Syndrome
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... ORPHA:167
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, T... ORPHA:79259
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Lymphedema, Malabsorption, Chronic diarrhea, Feeding d... ORPHA:2176
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... ORPHA:2538
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Lymphedema, Biliary tract neoplasm, ... ORPHA:662
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Squamous cell carcinoma, ... OMIM:226600
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ... ORPHA:171
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... OMIM:131100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Intestinal malrotation, Oligohydramnios OMIM:619431
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent streptococcal infections, Recur... OMIM:607676
Williams Syndrome
Colonic diverticula, Nausea and vomiting, Recurrent urinary tract infections, Recurrent respirato... ORPHA:904
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Chronic rhinitis, Squamous cell carcinoma OMIM:615225
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Lymphedema, Increased circulating IgA level, Severe cytomegalovirus infecti... OMIM:300291
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Recurrent infections, Microcolo... OMIM:619351
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Williams-Beuren Syndrome
Colonic diverticula, Recurrent urinary tract infections, Celiac disease, Feeding difficulties in ... OMIM:194050
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate OMIM:303600
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Palpebral edema, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... ORPHA:60033
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... OMIM:305000
Diamond-Blackfan Anemia 7
Macrocytic anemia, Polyhydramnios, Cleft palate, Recurrent infections, Increased mean corpuscular... OMIM:612562
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Inflammation of the ... ORPHA:70591
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Pericardial effusion, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveiti... OMIM:181000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stricture, Malnutrition,... ORPHA:89842
Xeroderma Pigmentosum Variant
Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atre... OMIM:617666
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Elevated circulat... OMIM:242840
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Cutaneous leiomyoma, High palate, Hepatic failure, Asc... OMIM:606812
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79410
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma, Recurrent pneumonia, Recurrent upper respiratory tract infections, Dysph... ORPHA:60032
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Cleft palate, Carcinoma, Teratoma, Lipoma, Hepatoblastoma, Me... OMIM:304050
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Polyhydramnios, Feed... ORPHA:1199
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Chronic diarrhea, Recurrent infections, Squamous cell carc... OMIM:601675
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Lymphe... ORPHA:109
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Abdominal distention, Hepatic failure, Hepatitis... ORPHA:186
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Chronic diarr... OMIM:300972
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Severe periodontitis, Re... ORPHA:678
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Recur... OMIM:309800
Lysinuric Protein Intolerance
Glomerulonephritis, Increased circulating ferritin concentration, Diarrhea, Thrombocytopenia, Int... ORPHA:470
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae ORPHA:302
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Recurrent infections, Hepatosplenomegaly, Esophagitis, Hepatic failure, Oli... ORPHA:541423
Sacral Defect With Anterior Meningocele
Sacral lipoma, Constipation, Rectal abscess, Hydromyelia, Meningitis OMIM:600145
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, High, narrow palate, Submucous cleft hard palate, Rectal atresi... ORPHA:2753
Sickle Cell Disease
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacte... OMIM:603903
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macroglossia, Recurre... OMIM:248500
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis... ORPHA:79277
Microphthalmia With Linear Skin Defects Syndrome
Feeding difficulties, Abnormal rectum morphology, Abnormality of the anus ORPHA:2556
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Turner Syndrome Due To Structural X Chromosome Anomalies
Lymphedema, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gast... ORPHA:99413
Turner Syndrome
Lymphedema, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gast... ORPHA:881
Mosaic Monosomy X
Lymphedema, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gast... ORPHA:99228
Monosomy X
Lymphedema, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gast... ORPHA:99226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infa... ORPHA:280633
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Furrowed tongue, Squamous cell carcinoma, Keratoc... OMIM:148210
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... ORPHA:2273
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Edema, Esophageal stric... ORPHA:79404
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis ORPHA:79351
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Xeroderma Pigmentosum, Variant Type
Keratitis, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma OMIM:278750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Hodgkin lymphoma, Feeding difficulties, Constipation, Gastr... ORPHA:2896
Penile Agenesis
Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Oligohydramnios ORPHA:49
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties OMIM:615356
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Poor appetite, Feeding difficulties in infancy, High, narrow palate, Gastroesophageal reflux, Vom... ORPHA:96182
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia, Pedal edema ORPHA:99103
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis,... ORPHA:198
9Q33.3Q34.11 Microdeletion Syndrome
Constipation, Esophagitis, Dysphagia ORPHA:495818
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intestinal malrotation, Microcolon OMIM:600001
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Feeding difficulties, Recurrent Staphylococcus aureus infections, Dysph... ORPHA:642
Restrictive Dermopathy
Submucous cleft hard palate, Microcolon, Polyhydramnios ORPHA:1662

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 Raph1

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 Raph1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Raph1tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Raph1tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Raph1tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Raph1tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Raph1tm1b(EUCOMM)Wtsi PMC5827107

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
Raph1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Raph1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Raph1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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