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Gene: Arhgap17 MGI:1917747

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Gene Summary

Name:
Rho GTPase activating protein 17
Synonyms:
Rich1,  WBP15,  5730403H17Rik,  Nadrin2,  Nadrin

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
decreased B-1a cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral content Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 4.51×10-05
decreased mature B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased follicular B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased transitional stage T1 B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating fructosamine level Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 8.74×10-07
decreased circulating glucose level Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 2.13×10-05
improved glucose tolerance Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 1.20×10-06
abnormal bone structure Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 1.92×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

4 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Arhgap17tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Arhgap17tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Arhgap17tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arhgap17tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arhgap17tm1b(EUCOMM)Wtsi
HOM, Male, WTSI

View all 70 images

Human diseases caused by Arhgap17 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 Arhgap17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Growth delay, ... OMIM:615767
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Folliculitis, Colitis, Pyoderma, Cro... OMIM:613148
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... OMIM:617638
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Immunodeficiency 76
Growth delay, Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Colitis,... OMIM:615190
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... OMIM:619281
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Growth delay, Vomiting, Polydipsia ORPHA:30925
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, E... OMIM:616050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Eczema, Abnormal immunoglobulin level, Feeding difficulties in i... ORPHA:98813
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Short stature, Eczema, Alle... OMIM:618131
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Growth d... OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis, Decreased circulating antibody level OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia ORPHA:100024
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Aggressive behavior, Abdominal pain, Feeding difficulties, Growth dela... OMIM:616809
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus OMIM:610947
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Chronic diarrhea... OMIM:301220
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Membranous nephropathy, Coloni... OMIM:618999
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Ch... OMIM:616433
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell... OMIM:301078
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Cystinosis
Short stature, Malabsorption, Vomiting, Delayed puberty, Polydipsia, Failure to thrive, Abnormal ... ORPHA:213
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Decreased ... ORPHA:540
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increas... OMIM:256500
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard... OMIM:620133
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Protein-losing enteropathy, Vomiting, Steatorrhea, Fa... OMIM:602579
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Cachexia, Abdominal... ORPHA:3452
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Septo-Optic Dysplasia Spectrum
Short stature, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Obesi... ORPHA:3157
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating... OMIM:619802
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Increased circulating IgE l... OMIM:304790
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre... OMIM:618935
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... OMIM:615559
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Addictive alcoh... ORPHA:178320
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Feeding difficulties in infancy, Vomiting, Constipation, Polydipsia, Failure to th... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Feeding difficulties in infancy, Vomiting, Constipation, Polydipsia, Failure to th... OMIM:304800
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Keratoconjunctivitis s... ORPHA:309031
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Esophageal varix, Decreased specific anti-polysaccharide antibody level, Growth... OMIM:614576
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Diarrhea, Esophagea... ORPHA:391487
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Short stature, Anorexia, Feeding difficulties, Growth delay, Constipation, P... ORPHA:223
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Small for gestational age, Abdominal distentio... ORPHA:90051
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Weight lo... ORPHA:99867
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... ORPHA:537
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Immunodeficiency 31C
Chronic oral candidiasis, Villous atrophy, Osteomyelitis, Short stature, Eczema, Diarrhea, Bronch... OMIM:614162
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Nausea, Abdominal pain, Intestinal ... ORPHA:544482
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Ochoa Syndrome
Cryptorchidism, Polydipsia, Constipation, Bowel incontinence ORPHA:2704
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Small for gestational age, Bloody diarrhea, Colitis, H... ORPHA:84064
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Growth delay, Inflammation... OMIM:615895
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Hyperactivity, Keratitis, Diarrhea, Intrauterine growth retard... ORPHA:525731
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis OMIM:619468
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... ORPHA:158061
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Const... ORPHA:3463
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis,... ORPHA:79259
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... OMIM:557000
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Growth delay, Vomiting... ORPHA:47159
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Parathyroid Carcinoma
Nausea and vomiting, Peptic ulcer, Testicular neoplasm, Weight loss, Episodic abdominal pain, Con... ORPHA:143
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Familial Hyperaldosteronism Type I
Polydipsia, Nausea ORPHA:403
Mednik Syndrome
Jejunal atresia, Diarrhea, Growth delay, Volvulus, Microcolon OMIM:609313
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Glycogen Storage Disease Ib
Short stature, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Protuberant a... OMIM:232220
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Abdominal pain, Abnormality of cytokine secretion, He... ORPHA:567983
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... OMIM:619573
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... ORPHA:707
Hyperparathyroidism, Neonatal Severe
Feeding difficulties in infancy, Polydipsia, Failure to thrive, Constipation OMIM:239200
Fumarase Deficiency
Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Mitochondrial swelling OMIM:606812
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Gitelman Syndrome
Salt craving, Abdominal pain, Growth delay, Vomiting, Constipation, Delayed puberty, Polydipsia, ... OMIM:263800
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Polydipsia, Failure to thrive, Short stature ORPHA:320
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Chronic diarrhea, Increased circu... OMIM:301000
Familial Hyperaldosteronism Type Iii
Polydipsia, Nausea ORPHA:251274
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Villous atrophy, Pericarditis, Feeding difficulties in infancy, ... OMIM:212065
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Brain-Lung-Thyroid Syndrome
Hyperactivity, Short stature, Abnormal eating behavior, Recurrent pneumonia, Abnormal drinking be... ORPHA:209905
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Peptic ulcer, Testicular neoplasm, Episodic abdominal pain, Constipation, Dy... ORPHA:99880
Senior-Boichis Syndrome
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... ORPHA:84081
Glycogen Storage Disease Ic
Stomatitis, Hepatocellular carcinoma, Chronic pancreatitis, Gout, Inflammation of the large intes... OMIM:232240
Methanol Poisoning
Diarrhea, Addictive alcohol use, Vomiting, Abdominal pain ORPHA:31825
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Aggressive behavior, Celiac disease, Gastrointestinal dysmotility, Obesity, Feedin... ORPHA:293987
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Pyloric stenosis, Polydipsia, Arthritis ORPHA:93111
Marchiafava-Bignami Disease
Malnutrition, Addictive alcohol use, Vomiting, Aggressive behavior ORPHA:221074
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nausea ORPHA:369929
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Cholangitis, Recurrent pneumonia, Es... ORPHA:731
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Nausea ORPHA:231580
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent hypoglycemia, Severe B lymphocytopenia, Autoimmune thro... ORPHA:293978
Trichohepatoenteric Syndrome 1
Villous atrophy, Short stature, Small for gestational age, Decreased circulating antibody level, ... OMIM:222470
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Distal Renal Tubular Acidosis
Short stature, Poor appetite, Diarrhea, Growth delay, Vomiting, Constipation, Polydipsia, Failure... ORPHA:18
Infantile Nephropathic Cystinosis
Growth delay, Vomiting, Constipation, Polydipsia, Failure to thrive ORPHA:411629
Isolated Osteopoikilosis
Discoid lupus rash, Addictive alcohol use, Cleft palate ORPHA:166119
Rabson-Mendenhall Syndrome
Short stature, Furrowed tongue, Macroglossia, Severe postnatal growth retardation, High palate, I... ORPHA:769
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Helix Syndrome
Polydipsia, Xerostomia OMIM:617671
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Acute Promyelocytic Leukemia
Anorexia, Abdominal pain, Weight loss, Addictive alcohol use, Stomatitis ORPHA:520
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Panhypophysitis
Polydipsia, Hashimoto thyroiditis, Nausea, Poor appetite ORPHA:95513
Teratoma, Pineal
Polydipsia OMIM:273120
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Nephronophthisis 4
Growth delay, Polydipsia OMIM:606966
Turner Syndrome Due To Structural X Chromosome Anomalies
Short stature, Failure to thrive in infancy, Celiac disease, High, narrow palate, Postnatal growt... ORPHA:99413
Turner Syndrome
Short stature, Failure to thrive in infancy, Celiac disease, High, narrow palate, Postnatal growt... ORPHA:881
Mosaic Monosomy X
Short stature, Failure to thrive in infancy, Celiac disease, High, narrow palate, Postnatal growt... ORPHA:99228
Monosomy X
Short stature, Failure to thrive in infancy, Celiac disease, High, narrow palate, Postnatal growt... ORPHA:99226
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss, Polydipsia ORPHA:35687
Cystinosis, Nephropathic
Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Growth delay... OMIM:219800
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity ORPHA:70591
Arima Syndrome
Growth delay, Polydipsia, Esophageal varix OMIM:243910
Hypomagnesemia 3, Renal
Feeding difficulties in infancy, Polydipsia, Failure to thrive, Abdominal pain OMIM:248250
Juvenile Nephropathic Cystinosis
Poor appetite, Feeding difficulties, Growth delay, Vomiting, Polydipsia, Failure to thrive ORPHA:411634
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Chronic hepatitis, Addictive alcohol use, H... ORPHA:101330
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-p... ORPHA:221139
Nephronophthisis 1
Growth delay, Polydipsia OMIM:256100
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Rheumatoid arthritis ORPHA:399180
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Lymphopenia, Anemia OMIM:620005
Pituitary Dermoid And Epidermoid Cysts
Nausea and vomiting, Polydipsia, Oligozoospermia ORPHA:91351
Alg12-Cdg
Recurrent hypoglycemia, B lymphocytopenia, Thrombocytopenia, Abnormal bone ossification ORPHA:79324
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving, Short stature OMIM:612780
Gitelman Syndrome
Nausea and vomiting, Salt craving, Abdominal pain, Diarrhea, Gout, Tubulointerstitial nephritis, ... ORPHA:358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon OMIM:619351
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Nephronophthisis 11
Growth delay, Polydipsia OMIM:613550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Bartter Syndrome, Type 2, Antenatal
Short stature, Small for gestational age, Diarrhea, Vomiting, Constipation, Polydipsia, Failure t... OMIM:241200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Vomiting, Nausea ORPHA:90065
Ethylene Glycol Poisoning
Addictive alcohol use, Gastritis, Vomiting, Nausea ORPHA:31826
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Alg9-Cdg
Villous atrophy, Rhizomelia, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula ORPHA:79328
Nephronophthisis 3
Polydipsia OMIM:604387
Mowat-Wilson Syndrome
Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Abnormal repetitive mannerisms, Bifid ... ORPHA:2152
Staphylococcal Necrotizing Pneumonia
Acute infectious pneumonia, Addictive alcohol use, Pneumonia ORPHA:36238
Herpes Simplex Virus Encephalitis
Nausea and vomiting, Addictive alcohol use ORPHA:1930
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Colon perforation, Intrauterine growth retardation, Failure to thrive, Mi... OMIM:600001
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777

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 Arhgap17

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 Arhgap17.

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) Arhgap17tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Arhgap17tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arhgap17tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arhgap17tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Arhgap17tm1b(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
Arhgap17tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Arhgap17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arhgap17tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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