Gene Summary

Name:
cadherin 1
Synonyms:
uvomorulin,  L-CAM,  E-cadherin,  E-cad,  UM,  Ecad

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
preweaning lethality, complete penetrance Cdh1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased body weight Cdh1tm1a(EUCOMM)Wtsi HET Early adult 1.43×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
blood vessel 0.0%
bone 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
peripheral nervous system 0.19% (1 of 520)
peyer's patch 0.64% (1 of 156)
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
uterus 0.38% (2 of 527)
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.

Legacy Phenotype Associated Images

View all 153 images

Human diseases caused by Cdh1 mutations

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

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

The table below shows human diseases associated to Cdh1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cleft Lip/Palate
Oral-pharyngeal dysphagia, Recurrent otitis media ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis OMIM:137215
Ovarian Cancer
OMIM:167000
Prostate Cancer
OMIM:176807
Breast Cancer
OMIM:114480
Endometrial Cancer
OMIM:608089
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997

The table below shows human diseases predicted to be associated to Cdh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis media, Recurrent... OMIM:613501
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections, Peritonitis OMIM:615561
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... OMIM:613953
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections OMIM:609536
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ... OMIM:613493
Retinitis Pigmentosa 42
Pallor OMIM:612943
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent ot... OMIM:612692
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Colitis, Recurrent bacterial infecti... OMIM:209920
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Retinitis Pigmentosa 60
Pallor OMIM:613983
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Meningitis, Recurrent bronchitis, ... OMIM:240500
Optic Atrophy 9
Pallor OMIM:616289
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Recurrent bronchitis, Recurrent pn... OMIM:607594
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacterial infe... OMIM:243700
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... ORPHA:572
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinitis Pigmentosa 27
Pallor OMIM:613750
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Breath-Holding Spells
Pallor OMIM:607578
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Retinitis Pigmentosa 73
Pallor OMIM:616544
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otit... OMIM:617475
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recur... OMIM:601495
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Halothane Hepatitis
Obesity OMIM:234350
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Hemoglobin D Disease
Pallor ORPHA:90039
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent tonsillitis, Pulmonary tuberculosis, Severe infection, Sepsis, Recur... ORPHA:183675
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Diarrhea, Recu... ORPHA:486
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Omenn Syndrome
Diarrhea, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Immunodeficiency 36
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... OMIM:616005
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Nephronophthisis 15
Obesity OMIM:614845
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Narcolepsy 7
Obesity OMIM:614250
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... OMIM:606367
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Recurrent ba... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Diarrhea, Enteroviral encephali... OMIM:308230
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent urinary tract infec... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections OMIM:618048
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Dravet Syndrome
Pallor ORPHA:33069
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Myelofibrosis
Pallor, Purpura OMIM:254450
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Irida Syndrome
Pallor ORPHA:209981
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Cold Agglutinin Disease
Pallor ORPHA:56425
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Retinitis Pigmentosa 75
Pallor OMIM:617023
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Pgm3-Cdg
Recurrent fungal infections, Gastroesophageal reflux, Sepsis, Recurrent bacterial infections, Rec... ORPHA:443811
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Diarrhea ORPHA:36412
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Mirage Syndrome
Gastroesophageal reflux, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infectio... OMIM:617053
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Gastroesophageal reflux, Recurrent bacteri... ORPHA:221139
Immunodeficiency 23
Severe varicella zoster infection, Recurrent staphylococcal infections, Chronic mucocutaneous can... OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent fungal infections, Recurrent bacterial infections, Diarrhea, Chronic mucocutaneous cand... OMIM:102700
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
American Trypanosomiasis
Pallor ORPHA:3386
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Gastroesophageal reflux, Recurrent bacterial infections, Recurrent pneu... OMIM:608233
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Vici Syndrome
Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutaneous candidiasis, R... OMIM:242840
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Elliptocytosis 1
Pallor OMIM:611804
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Small for gestational age ORPHA:254534
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Senior-Loken Syndrome 8
Pallor OMIM:616307
Postinfectious Vasculitis
Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... ORPHA:48435
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Chronic diarrhea, Steatorrhea ORPHA:2176
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Fumarase Deficiency
Pallor OMIM:606812
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Chronic diarrhea, Inflammation of the large intestine, Hematochezia OMIM:615895
Letterer-Siwe Disease
Pallor OMIM:246400
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Rare Circulatory System Disease
Pallor ORPHA:98028
Hereditary Spherocytosis
Skin ulcer, Pallor ORPHA:822
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent bacterial infections, Recurrent streptococcal infe... ORPHA:167
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Dominant Beta-Thalassemia
Skin ulcer, Pallor ORPHA:231226
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Aregenerative Anemia
Pallor ORPHA:101096
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Necrotizing enterocolitis, Sepsis, Recurrent bacterial infections, S... OMIM:619573
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Beta-Thalassemia Major
Skin ulcer, Pallor ORPHA:231214
Pituitary Apoplexy
Pallor ORPHA:95613
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Adenohypophysitis
Pallor ORPHA:95512
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections, Chronic diarrhea, Exocrine pancreatic insuf... OMIM:300972
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Panhypophysitis
Pallor ORPHA:95513
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections OMIM:214500
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent tonsillitis, Sepsis, Recurrent u... ORPHA:2968
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine OMIM:232220
Insulinoma
Increased body weight ORPHA:97279
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Steatorrhea, Sepsis, Recurrent bacterial infections, Recurrent... ORPHA:811
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Sotos Syndrome
Increased body weight, Overgrowth, Tall stature OMIM:117550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Recurrent bacterial infections, Diarrhea, Inflammation of the large intestine, Ulc... ORPHA:79259
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Esophageal Atresia
Pallor ORPHA:1199
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Degcags Syndrome
Pallor OMIM:619488
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Increased body weight ORPHA:189427
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Increased body weight, Failure to thrive ORPHA:398069
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189439
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Blackfan-Diamond Anemia
Pallor ORPHA:124
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Lysinuric Protein Intolerance
Recurrent bacterial infections, Diarrhea, Vomiting, Steatorrhea ORPHA:470
Von Hippel-Lindau Disease
Pallor ORPHA:892
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Abdominal obesity, Increased body weight, Truncal obesity ORPHA:96253
Goodpasture Syndrome
Pallor OMIM:233450
Hereditary Sensory And Autonomic Neuropathy Type 4
Dysphagia, Recurrent Staphylococcus aureus infections ORPHA:642
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Increased body weight, Weight loss, Truncal obesity ORPHA:99889
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Cleft Lip/Palate
Oral-pharyngeal dysphagia, Recurrent otitis media ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis OMIM:137215
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997
Ovarian Cancer
OMIM:167000
Endometrial Cancer
OMIM:608089
Prostate Cancer
OMIM:176807
Breast Cancer
OMIM:114480

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 Cdh1

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 Cdh1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
E-Cadherin restricts mast cell degranulation in mice. European journal of immunology (October 2021) Cdh1tm1a(EUCOMM)Wtsi 34606636
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdh19tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)