Gene Summary

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

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

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 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)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
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%
oesophagus 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)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 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)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 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.

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
Recurrent otitis media, Oral-pharyngeal dysphagia ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Gastric Cancer, Hereditary Diffuse
Chronic atrophic gastritis OMIM:137215
Ovarian Cancer
OMIM:167000
Prostate Cancer
OMIM:176807
Breast Cancer
OMIM:114480
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997
Endometrial Cancer
OMIM:608089

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 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
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 herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Diarrhea, Recurrent bacterial infections, 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 viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age 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 otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Diarrhea, Recurrent bacterial ... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Diarrhea, Recurrent bacterial infections, Recurrent ... OMIM:613502
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 fungal infections, Recurrent bacterial infections OMIM:614868
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
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
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Recurren... ORPHA:319552
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Mgat2-Cdg
Tall stature ORPHA:79329
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Diarrhea, Recurrent pneumonia, Recurrent enteroviral... OMIM:601495
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:243700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Retinitis Pigmentosa 42
Pallor OMIM:612943
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Specific Granule Deficiency 2
Recurrent otitis media, Diarrhea, Recurrent bacterial infections, Recurrent pneumonia OMIM:617475
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity 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
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent meningococcal disease OMIM:609536
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Narcolepsy Type 1
Obesity ORPHA:2073
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Optic Atrophy 9
Pallor OMIM:616289
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Diarrhea, Recurren... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Adult Idiopathic Neutropenia
Recurrent fungal infections, Helicobacter pylori infection, Recurrent infections, Recurrent bacte... ORPHA:2688
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Diarrhea,... OMIM:607594
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Chron... ORPHA:911
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurr... ORPHA:572
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Retinitis Pigmentosa 70
Pallor OMIM:615922
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Diarrhea, Encep... OMIM:307200
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Breath-Holding Spells
Pallor OMIM:607578
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Abcd Syndrome
Large for gestational age OMIM:600501
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Retinitis Pigmentosa 73
Pallor OMIM:616544
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Immunodeficiency 36
Chronic diarrhea, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Halothane Hepatitis
Obesity OMIM:234350
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Meningitis, Recurrent mycobacterial infe... ORPHA:169090
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
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
Adiposis Dolorosa
Obesity OMIM:103200
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent sinopulmonary infections, Diarrhea, Recurrent bacterial inf... ORPHA:486
Omenn Syndrome
Recurrent viral infections, Diarrhea, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Retinitis Pigmentosa 71
Obesity OMIM:616394
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Recurrent bact... OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Nephronophthisis 15
Obesity OMIM:614845
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Narcolepsy 7
Obesity OMIM:614250
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Biemond Syndrome Type 2
Obesity ORPHA:141333
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Chronic diarrhea, Recurrent viral infectio... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent vi... ORPHA:331206
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Meningitis, Diarrhea, Recurrent bacterial infections, Recurrent lower respiratory tra... OMIM:308230
Retinitis Pigmentosa 51
Pallor OMIM:613464
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Myelofibrosis
Pallor, Purpura OMIM:254450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Dravet Syndrome
Pallor ORPHA:33069
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Irida Syndrome
Pallor ORPHA:209981
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Cold Agglutinin Disease
Pallor ORPHA:56425
Retinitis Pigmentosa 75
Pallor OMIM:617023
Pgm3-Cdg
Esophagitis, Recurrent fungal infections, Gastroesophageal reflux, Recurrent viral infections, Re... ORPHA:443811
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Hypocomplementemic Urticarial Vasculitis
Meningitis, Diarrhea, Recurrent bacterial infections ORPHA:36412
Mirage Syndrome
Gastroesophageal reflux, Recurrent urinary tract infections, Chronic diarrhea, Achalasia, Recurre... OMIM:617053
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Immunodeficiency 23
Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylococcus aureus infe... OMIM:615816
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Gastroesophageal reflux, Recurrent urinary... ORPHA:221139
Senior-Loken Syndrome 8
Pallor OMIM:616307
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Gastroesophageal reflux, R... OMIM:608233
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
American Trypanosomiasis
Pallor ORPHA:3386
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Vici Syndrome
Recurrent fungal infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recur... OMIM:242840
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Elliptocytosis 1
Pallor OMIM:611804
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Recurrent fungal infections, Recurrent bacterial infections OMIM:102700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Infantile Systemic Hyalinosis
Chronic diarrhea, Steatorrhea, Recurrent bacterial infections ORPHA:2176
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Fumarase Deficiency
Pallor OMIM:606812
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Letterer-Siwe Disease
Pallor OMIM:246400
Whim Syndrome
Parotitis, Recurrent upper respiratory tract infections, Meningitis, Recurrent pneumonia, Sepsis,... ORPHA:51636
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Petechiae, Pallor, Purpura ORPHA:90051
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Chromomycosis
Recurrent bacterial infections ORPHA:182
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Childhood Absence Epilepsy
Pallor ORPHA:64280
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bacterial skin... ORPHA:167
Rare Circulatory System Disease
Pallor ORPHA:98028
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Aregenerative Anemia
Pallor ORPHA:101096
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Pituitary Apoplexy
Pallor ORPHA:95613
Adenohypophysitis
Pallor ORPHA:95512
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Panhypophysitis
Pallor ORPHA:95513
Prolactinoma
Pallor ORPHA:2965
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Leukocyte Adhesion Deficiency
Peritonitis, Recurrent tonsillitis, Recurrent fungal infections, BCGosis, Chronic oral candidiasi... ORPHA:2968
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Insulinoma
Increased body weight ORPHA:97279
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Paroxysmal Nocturnal Hemoglobinuria
Pallor ORPHA:447
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Recurrent viral infections, Steatorrhea, Recurrent bacterial i... ORPHA:811
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Ulcerative colitis, Diarrhea, Recurrent bacterial infections... ORPHA:79259
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Esophageal Atresia
Pallor ORPHA:1199
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Von Hippel-Lindau Disease
Pallor ORPHA:892
Blackfan-Diamond Anemia
Pallor ORPHA:124
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Steatorrhea, Recurrent bacterial infections ORPHA:470
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Hellp Syndrome
Increased body weight ORPHA:244242
Goodpasture Syndrome
Pallor OMIM:233450
Hereditary Sensory And Autonomic Neuropathy Type 4
Dysphagia, Recurrent Staphylococcus aureus infections ORPHA:642
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Cleft Lip/Palate
Recurrent otitis media, Oral-pharyngeal dysphagia ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Gastric Cancer, Hereditary Diffuse
Chronic atrophic gastritis OMIM:137215
Endometrial Cancer
OMIM:608089
Breast Cancer
OMIM:114480
Prostate Cancer
OMIM:176807
Ovarian Cancer
OMIM:167000
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997

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 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) Cdh19tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)