Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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
decreased bone mineral content Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 4.51×10-05
decreased circulating glucose level Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 2.13×10-05
decreased follicular 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
increased transitional stage T1 B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased B-1a cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mature B cell number Arhgap17tm1b(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.

Spleen Immunophenotyping

Images associated with FACS analysis

28 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

4 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

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
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, ... OMIM:613148
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay OMIM:251850
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea 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
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Abdominal colic, Villous atrophy OMIM:615863
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Abdominal distention, Malnutrition, Villous atro... ORPHA:95427
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Recurrent sinusitis, Decreased circulating total... OMIM:618969
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Villous atrophy, C... OMIM:614602
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Decreased circulating ant... OMIM:615190
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Growth delay OMIM:619164
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... ORPHA:1201
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... OMIM:614328
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Polydipsia, Weight loss, Growth delay ORPHA:30925
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili... ORPHA:411696
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Ulcerative colitis, Decreased circulating IgA level, Crohn's dis... OMIM:618394
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Failure to thrive, Villous atrophy, Skin rash, Feeding difficulties in infanc... OMIM:616050
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:613412
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Intrauter... OMIM:243150
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... OMIM:618131
Central Diabetes Insipidus
Diarrhea, Polydipsia, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Aggressive behavior, Abdominal pain, High palate, Growth delay, Necrotizing enterocolit... OMIM:616809
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Vomiting, Eczematoid dermatitis, Failure to thrive in infancy, D... OMIM:619510
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Decreased circulating antibody level, Recurrent sinusitis OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Short stature... OMIM:618999
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Fail... ORPHA:810
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive OMIM:301108
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Increased circulating interferon-gamma concentration, Abnormality of tu... ORPHA:540
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... OMIM:256500
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Recurrent infecti... ORPHA:911
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Intrauterine growth retardation, Pancoliti... OMIM:620133
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Villous atrop... OMIM:602579
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... ORPHA:2137
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Decreas... OMIM:619802
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Villous atr... OMIM:304790
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Constipation, Tracheoesophageal fistula, Esophageal atresia, Short stature, ... ORPHA:3157
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Polydipsia, Failure to thrive, Feeding difficulties in infancy, Constipation, Short sta... OMIM:125800
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Intestinal lym... ORPHA:90362
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Polydipsia, Failure to thrive, Feeding difficulties in infancy, Constipation, Short sta... OMIM:304800
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Failure to thrive OMIM:615947
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate OMIM:601110
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Refractory Celiac Disease
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... ORPHA:398063
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Acute Lung Injury
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... ORPHA:178320
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Pancolitis, Eosinophilic... OMIM:618213
Cyclic Neutropenia
Periodontitis, Otitis media, Perianal abscess, Peritonitis, Enterocolitis, Sinusitis, Abdominal p... ORPHA:2686
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,... OMIM:620430
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Uveitis, Malabsorption, Infectious encephaliti... ORPHA:3452
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Nausea and vomiting, Constipation, Anorexia, Short stature, Growth... ORPHA:223
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly OMIM:620282
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Bronchiectasis, Eczematoid dermatitis, Chronic mucocutaneou... OMIM:614162
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Weight loss, Glomerulonephritis, Decreased ci... ORPHA:99867
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... ORPHA:90038
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Acute hepatic failure, Malabsorption, Nausea and vomitin... ORPHA:537
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Blepharitis, Recurrent pneumonia, Failure to t... OMIM:617718
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Cystinosis
Vomiting, Polydipsia, Failure to thrive, Malabsorption, Delayed puberty, Short stature, Motor ste... ORPHA:213
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight... OMIM:619377
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Failure to thrive i... OMIM:606367
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Vomiting, Diarrhea, Secretory diarrhea, ... ORPHA:544482
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Familial Cold Urticaria
Polydipsia, Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis ORPHA:47045
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Panhypogammaglobulinemia, Intrauterine growth retardation,... ORPHA:84064
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Nephronophthisis 9
Postnatal growth retardation, Polydipsia OMIM:613824
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid d... OMIM:615895
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Pediatric-Onset Graves Disease
Diarrhea, Polydipsia, Failure to thrive, Keratitis, Intrauterine growth retardation, Nausea and v... ORPHA:525731
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis OMIM:619468
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Ochoa Syndrome
Constipation, Polydipsia, Bowel incontinence ORPHA:2704
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Failure to thrive... OMIM:620376
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Gout, Enterocoli... ORPHA:79259
Idiopathic Hypereosinophilic Syndrome
Vomiting, Inflammatory abnormality of the skin, Failure to thrive, Abdominal distention, Eczemato... ORPHA:3260
Plague
Inflammation of the large intestine, Vomiting, Diarrhea, Lymphadenitis, Chapped lip, Skin rash, I... ORPHA:707
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Failure to thrive OMIM:608776
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Agitation, Nausea, Abdominal pain, Glomerulonephritis, Tu... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Weight loss, Chronic hepatic failure, ... ORPHA:171
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Familial Hyperaldosteronism Type I
Nausea, Polydipsia ORPHA:403
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Growth delay OMIM:609313
Wolfram Syndrome
Gastrointestinal hemorrhage, Polydipsia, Malabsorption, Feeding difficulties in infancy, Constipa... ORPHA:3463
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Parathyroid Carcinoma
Peptic ulcer, Polydipsia, Nausea and vomiting, Episodic abdominal pain, Weight loss, Constipation... ORPHA:143
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Intrauterine ... OMIM:619573
Parenteral Nutrition-Associated Cholestasis
Hepatic failure, Villous atrophy, Abnormality of cytokine secretion, Abdominal pain, Small for ge... ORPHA:567983
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villous atrophy,... OMIM:557000
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Delayed puberty, Pancreatitis, Protuberant abdomen, Sh... OMIM:232220
Fumarase Deficiency
Hepatic failure, Failure to thrive, Mitochondrial swelling, High palate, Necrotizing enterocolitis OMIM:606812
Apparent Mineralocorticoid Excess
Short stature, Intrauterine growth retardation, Polydipsia, Failure to thrive ORPHA:320
Gitelman Syndrome
Vomiting, Polydipsia, Failure to thrive, Salt craving, Constipation, Delayed puberty, Abdominal p... OMIM:263800
Familial Hyperaldosteronism Type Iii
Nausea, Polydipsia ORPHA:251274
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Increased circulating antibody level, Iridocyclitis, Weight ... OMIM:181000
Hyperparathyroidism, Neonatal Severe
Feeding difficulties in infancy, Constipation, Polydipsia, Failure to thrive OMIM:239200
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Failure to thrive, Abnormal eating behavior, Abnormal drinking behavior, Hyp... ORPHA:209905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Decrea... OMIM:301000
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Vomiting, Diarrhea, Failure to thrive, Decreased circulating IgA... OMIM:212065
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Abnormality of the gastrointestinal trac... ORPHA:2241
Senior-Boichis Syndrome
Polydipsia, Aggressive behavior, Attention deficit hyperactivity disorder, Esophageal varix, Agit... ORPHA:84081
Bardet-Biedl Syndrome 17
Obesity, Polydipsia OMIM:615994
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Recurrent ... ORPHA:293978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Delayed puberty,... OMIM:232240
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Polydipsia, Nausea and vomiting, Episodic abdominal pain, Constipation, Pancreatiti... ORPHA:99880
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Infectious encephalitis, Polyphagia, Gastrointestin... ORPHA:293987
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nausea, Polydipsia ORPHA:369929
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Polydipsia, Arthritis, Pyloric stenosis ORPHA:93111
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Recurrent pneumonia, Polydipsia, Feeding... ORPHA:731
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Hepatic failure OMIM:619431
Primary Unilateral Adrenal Hyperplasia
Nausea, Polydipsia ORPHA:231580
Trichohepatoenteric Syndrome 1
Bifid uvula, Intractable diarrhea, Hepatic failure, Failure to thrive, Intrauterine growth retard... OMIM:222470
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, Delayed puberty, High pala... OMIM:617137
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Failure to thrive, Constipation, Growth delay ORPHA:411629
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Failure to thrive, Polydipsia, Constipation, Short stature, Growth delay, Poo... ORPHA:18
Rabson-Mendenhall Syndrome
Polydipsia, Furrowed tongue, Intrauterine growth retardation, Severe postnatal growth retardation... ORPHA:769
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Helix Syndrome
Polydipsia, Xerostomia OMIM:617671
Nephronophthisis 3
Polydipsia, Failure to thrive OMIM:604387
East Syndrome
Salt craving, Polydipsia ORPHA:199343
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Panhypophysitis
Hashimoto thyroiditis, Nausea, Polydipsia, Poor appetite ORPHA:95513
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Nephronophthisis 4
Polydipsia, Growth delay OMIM:606966
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Abdominal pain ORPHA:35687
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Obesity, Inflammation of the large intestine ORPHA:70591
Teratoma, Pineal
Polydipsia OMIM:273120
Proximal Renal Tubular Acidosis
Diarrhea, Vomiting, Failure to thrive, Polydipsia, Malabsorption, Mild postnatal growth retardati... ORPHA:47159
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Postnatal... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Postnatal... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Postnatal... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Postnatal... ORPHA:99226
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Cystinosis, Nephropathic
Polydipsia, Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insufficiency, W... OMIM:219800
Arima Syndrome
Polydipsia, Growth delay, Esophageal varix OMIM:243910
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia, Craniosynostosis OMIM:620005
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Juvenile Nephropathic Cystinosis
Vomiting, Polydipsia, Failure to thrive, Growth delay, Feeding difficulties, Poor appetite ORPHA:411634
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... ORPHA:221139
Nephronophthisis 1
Polydipsia, Growth delay OMIM:256100
Pituitary Dermoid And Epidermoid Cysts
Nausea and vomiting, Polydipsia, Oligozoospermia ORPHA:91351
Alg12-Cdg
Recurrent hypoglycemia, Abnormal bone ossification, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Salt craving, Polydipsia OMIM:612780
Gitelman Syndrome
Diarrhea, Polydipsia, Failure to thrive, Nausea and vomiting, Gout, Hashimoto thyroiditis, Salt c... ORPHA:358
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention OMIM:619351
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Nephronophthisis 11
Polydipsia, Growth delay OMIM:613550
Bardet-Biedl Syndrome
Inflammation of the large intestine, Obesity, Otitis media, Aganglionic megacolon, Childhood-onse... ORPHA:110
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Aganglionic megacolon, Constipation, Abdominal pain ORPHA:163746
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Failure to thrive, Polydipsia, Constipation, Short stature, Small for gestati... OMIM:241200
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Alg9-Cdg
Bifid uvula, Rhizomelia, Vomiting, Diarrhea, Gastroesophageal reflux, Villous atrophy ORPHA:79328
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Bruxism, ... ORPHA:2152
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia OMIM:300755
Hypomagnesemia 3, Renal
Vomiting, Polydipsia, Failure to thrive, Feeding difficulties in infancy, Short stature, Abdomina... OMIM:248250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Coronal craniosynostosis, B lymphocytopenia ORPHA:83617
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Failure to thrive, Intestinal malrotation, Intrauterine growth ret... OMIM:600001

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