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Gene: Ica1 MGI:96391

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Gene Summary

Name:
islet cell autoantigen 1
Synonyms:
ICA69,  69kDa

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
abnormal cecum morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
small spleen Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating bilirubin level Ica1tm1b(EUCOMM)Wtsi HOM Early adult 6.09×10-06
abnormal spleen morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal kidney morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged kidney Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal eye morphology Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged cecum Ica1tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

69 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ica1 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 Ica1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resist... ORPHA:411593
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Rotor Syndrome
Hyperbilirubinemia, Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice... ORPHA:3111
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver di... ORPHA:2924
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Diabetes mellitus, Insulin resistance OMIM:612227
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hypoc... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Prolonged neona... OMIM:214950
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Abnormal rectum morphology, Abnormality of the lower urinary t... ORPHA:101009
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst OMIM:174050
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Inte... OMIM:208540
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Intestinal malrotation, Jejunal atresia, C... OMIM:615710
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Atretic gallbladder, Extrahepatic biliary duct atresia, Hyp... OMIM:210500
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Gastrointestinal hemorrhage, Hypertyrosinemia, Enlarged kidney, Renal... OMIM:276700
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Renal insufficiency, Increased total bilirubin ORPHA:890
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Platelet antibody positive, Antineutrophil antibody positivity, ... OMIM:601859
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hyperbilirubinemia, Macrovesicular hepatic steatosis, Hepatomeg... OMIM:613070
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Cardiome... OMIM:269920
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Hardikar Syndrome
Hydroureter, Hyperbilirubinemia, Intestinal malrotation, Recurrent urinary tract infections, Hepa... OMIM:612726
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Leukopenia, Abnormality of the ki... ORPHA:480520
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Renal insufficiency, Narrow palate, Decreased plasma total carnitine, ... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Tracheoesophageal fistula OMIM:314390
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Jaundice, Increased total bilirubin, Cholestasis OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Elevated circulating crea... ORPHA:730
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Hypoplasia of the small ... OMIM:200995
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholestasis, Portal fibrosis OMIM:614300
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Hepatomegal... ORPHA:2198
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Increased total bilirubin, Gastr... ORPHA:2137
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Acute kidn... ORPHA:90038
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, Renal tubular acidosis, Jaundic... OMIM:613404
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatos... OMIM:617303
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjugated hyperbilirubinem... ORPHA:53035
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Bile Acid Conjugation Defect 1
Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:619232
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Villous atrophy, Conjugated hyperbilirubinemia, Biliary hyperplasia... ORPHA:567983
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity OMIM:618495
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency, Neonatal hyper... OMIM:609727
Cystic Echinococcosis
Peritoneal abscess, Hepatic cysts, Abnormality of the peritoneum, Hyperbilirubinemia, Membranous ... ORPHA:400
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice OMIM:605479
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperuricemia, Neu... OMIM:232220
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperuricemia, Hep... OMIM:232200
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Increased ci... OMIM:618534
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Ab... ORPHA:464329
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, Renal tubular acidosis, Jaundic... OMIM:208085
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Hyperbilirubinemia, Steatorrhea, Hepatomegaly, Ja... OMIM:613471
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Macroglossia ORPHA:95717
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
H Syndrome
Abnormality of the kidney, Microcytic anemia, Enlarged kidney, Histiocytosis, Hypertriglyceridemi... ORPHA:168569
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hyp... ORPHA:1667
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Atretic gallbladder, Fat malabsorption, Periportal fibrosis, Conjug... ORPHA:30391
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Platelet antibody positive, Antineutrophil antibody positivity, ... OMIM:603909
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Abnormal liver lo... OMIM:608022
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged kidney, Nephrolithiasis, He... ORPHA:79259
Type 1 Diabetes Mellitus
Autoimmunity, Hyperglycemia, Diabetes mellitus OMIM:222100
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... ORPHA:277
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Polycythemia, Hepatomegaly, Unconjugated hyperb... OMIM:613280
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Hamartoma of tongue, Intestinal malrotation, Renal dysplasia, Anal atresia, Bifi... OMIM:613091
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Autoimmunity,... OMIM:240500
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Autoimmune hemolytic anemia, An... OMIM:610163
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hyperbilirubinemia, Elevated circulating long chain fatty acid concent... OMIM:614886
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Recurrent gastroenteritis, Enlarged kidney, Heavy proteinuria, Heparan sulfate excr... ORPHA:505248
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color ORPHA:90036
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Recurrent gastroenteritis, Hype... ORPHA:39812
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti... OMIM:619350
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Aminoaciduria, Cholestasis, High palate OMIM:606812
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Gastrointestinal hemorrhage, Hyperphosphaturia, Hepatic steatosis, T... OMIM:229600
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Conjugated... ORPHA:186
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Hemobilia, Polycythemia, Abnormal rectum ... ORPHA:88673
Abetalipoproteinemia
Cirrhosis, Hypotriglyceridemia, Reticulocytosis, Hepatic steatosis, Hyperbilirubinemia, Steatorrh... ORPHA:14
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Macroglossia, Abnormal circulating thyr... ORPHA:95716
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased circula... OMIM:607594
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Morphological abnormality of the gastrointestinal tract, Intestinal pe... ORPHA:464321
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Cleft palate, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Mirizzi Syndrome
Gallbladder perforation, Cholesterol gallstones, Hyperbilirubinemia, Dark urine, Cholelithiasis, ... ORPHA:521219
Lathosterolosis
Horseshoe kidney, Intrahepatic cholestasis, Abnormal circulating cholesterol concentration, Hyper... OMIM:607330
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Eosinophilopenia
Autoimmunity OMIM:131430
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Renal insufficiency, Polycystic kidney dysplasia, Colonic diverticula OMIM:173900
Beckwith-Wiedemann Syndrome
Hypercalciuria, Vesicoureteral reflux, Large intestinal polyposis, Cardiomegaly, Ureteral duplica... ORPHA:116
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Jaundice, Abnormality of the pancreas, Cholecystitis, Increased serum bile ac... ORPHA:69665
Mirage Syndrome
Microphallus, Lymphopenia, Gastroesophageal reflux, Hyponatremia, Achalasia, Esophageal stricture... OMIM:617053
Leprechaunism
Nephrocalcinosis, Long penis, Enlarged kidney, Enlarged ovaries, Increased circulating renin leve... ORPHA:508
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney ORPHA:276280
Gracile Bone Dysplasia
Ankyloglossia, Hypocalcemia, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute ... ORPHA:542323
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Beckwith-Wiedemann Syndrome
Macroglossia, Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesico... OMIM:130650
Bachmann-Bupp Syndrome
High palate, Hyperbilirubinemia OMIM:619075
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Autoimmune thromboc... OMIM:300853
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hyperuricemia, Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Inc... ORPHA:348
Cranioectodermal Dysplasia 2
Renal insufficiency, Polysplenia, Biliary cirrhosis, High palate, Hyperbilirubinemia, Cholestasis... OMIM:613610
Nk-Cell Enteropathy
Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophageal reflux, Abnormality of the ... ORPHA:263665
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Hydronephrosis, Anemia, Cleft palate, Hypospa... ORPHA:163979
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocy... ORPHA:79277
Immunodeficiency 81
Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Impaired collagen-induced platelet a... OMIM:619374
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529799
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Hypomagnes... ORPHA:699
Distal Xq28 Microduplication Syndrome
High palate, Neonatal hyperbilirubinemia ORPHA:293939
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased circulating ant... OMIM:615952
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Enlarged kidney, Chronic neutropenia, Multicystic ... ORPHA:500095
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Macroglossia, Enlarged kidney, Polysplenia, Intestinal malrotation, Hepatome... OMIM:312870
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Spontaneous hemolyti... ORPHA:168577
Bullous Pemphigoid
Autoimmunity, Diabetes mellitus ORPHA:703
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulin... ORPHA:2298
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Lack of T cell function, ... ORPHA:572
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Macroglossia, Increased circulating thy... ORPHA:90673
Microphthalmia, Syndromic 9
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Multilobulated spleen, Pel... OMIM:601186
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid arthritis, Decreased circulating IgA lev... ORPHA:275
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circul... ORPHA:331206
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Macroglossia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abn... ORPHA:90674
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:613179
Systemic Sclerosis
Abnormal stomach morphology, Renal insufficiency, Abnormality of the kidney, Intestinal bleeding,... ORPHA:90291
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Neonatal hyperbilirubinemia, Vesicoureteral reflux, Hypospadias, Micropenis ORPHA:163956
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Acute kidney injury, Abnormality of the gastroi... ORPHA:801
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:179494
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Rheumatoid arthr... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Rheumatoid arthr... ORPHA:227982
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Hyperbilirubinemia OMIM:218700
Congenital Disorder Of Glycosylation, Type Iim
Gastroesophageal reflux, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicov... OMIM:300896
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow hypocellularity ORPHA:1830
Fg Syndrome Type 1
Gastroesophageal reflux, Malrotation of colon, Anal atresia, Abnormal large intestine morphology,... ORPHA:93932
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:209920
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Decreased specific anti-polysaccharide antibody level OMIM:614576
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased lymphocyte proliferation in response t... ORPHA:35078
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgG2 level, C... OMIM:242840
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Autoimmun... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Diabetes mellitus ORPHA:2237
Immunodeficiency 58
Decreased T cell activation, Decreased specific antibody response to vaccination, Decreased circu... OMIM:618131
Orotic Aciduria
Impaired T cell function OMIM:258900
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Hamartomatous polyposis, Narrow palate, Intestinal polyposis ORPHA:109
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Diabetes mellitus OMIM:176690
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Increased circulating IgE level, De... OMIM:618213
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function ORPHA:567
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Digeorge Syndrome
Impaired T cell function OMIM:188400

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 Ica1

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 Ica1.

No publications found that use IMPC mice or data for Ica1.

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MGI Allele Allele Type Produced
Ica1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ica1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ica1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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