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Gene: Ocln MGI:106183

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
occludin
Synonyms:
Ocl

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ocln 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 Ocln by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudo-Torch Syndrome 1
Cleft lip, High palate, Cerebellar hypoplasia, Long philtrum OMIM:251290
Congenital Intrauterine Infection-Like Syndrome
ORPHA:1229

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Gastric Cancer
Stomach cancer OMIM:613659
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation ORPHA:160148
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:616576
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Intestinal perforation, Abnormality of the tongue, Abnormal skeleta... ORPHA:314652
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Gastritis, Skin rash, Myocarditis, Xerostomi... ORPHA:809
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Facial palsy, Sali... ORPHA:79493
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Supe... ORPHA:83451
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Reynolds Syndrome
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,... ORPHA:779
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Oral ulcer, Chronic constipation, Infla... OMIM:301074
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormal salivary gland morphology ORPHA:31
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Foot acroosteolysis, Periosteal t... OMIM:161700
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l... OMIM:616924
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Anterior pi... ORPHA:227990
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xer... ORPHA:227982
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Sh... ORPHA:261529
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Pneumonia, Skin rash, Recurrent skin i... OMIM:619381
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... ORPHA:93356
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Postnatal growth retardation, Cryptorchidism, Pyloric stenosis, Precocious puberty... ORPHA:96184
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Femoral retroversion, Cerebellar hypoplasia, Talipes equinovarus, O... OMIM:616531
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Filippi Syndrome
Cerebellar atrophy, Ambiguous genitalia, Postnatal growth retardation, Cryptorchidism, 2-4 toe sy... OMIM:272440
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Precocious puberty, Small hand, Short foot, High palate, Short phil... ORPHA:254531
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Abnormal pa... ORPHA:31202
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... OMIM:608940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... OMIM:613091
Ethylene Glycol Poisoning
Facial palsy, Gastritis, Vomiting, Nausea ORPHA:31826
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Bloody diarrhea, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Postnatal growth retardation, Pyloric stenosis, Hip dysplasia, Talipes equinovaru... OMIM:617219
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Postnatal g... OMIM:300963
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enl... ORPHA:449432
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, ... OMIM:615846
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit morp... ORPHA:2363
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, ... ORPHA:3261
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
15Q24 Microdeletion Syndrome
Smooth philtrum, Brachydactyly, Short stature, Decreased response to growth hormone stimulation t... ORPHA:94065
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Thyroiditis, Sclerosing cholangitis, Eu... ORPHA:64744
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Mild postnatal growth retardation, Bilateral cryptorchidism, Deep philtrum, Ga... OMIM:150230
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroiditis, Delayed puberty OMIM:618985
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Postnatal growth retardation, High, narrow palate, Cryptorchidism, P... OMIM:248700
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cleft upper... OMIM:263750
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Short stature, Tarsal synostosis, Wide capital femoral epiphyses, Flat c... OMIM:147891
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Abnormal finger flexion ... OMIM:210600
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Xerostomia... ORPHA:85443
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Facial palsy, Abnormal esophagus morphology ORPHA:252164
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulo... ORPHA:79078
Arteriosclerosis, Severe Juvenile
Short stature, Hip dysplasia, Gastric ulcer, Delayed puberty, Short phalanx of finger OMIM:208060
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Colitis, Cerebellar hypoplasia, Intrauterine g... OMIM:615190
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Bronchogenic Cyst
Pneumonia, Abnormal stomach morphology, Dysphagia, Abnormality of the diaphragm, Abnormal esophag... ORPHA:2357
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... ORPHA:79106
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... ORPHA:44890
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Decreased response to growth hormone stim... OMIM:604292
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidis... ORPHA:397590
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis, Chron... OMIM:612444
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hip dysplasia, High palate,... ORPHA:457240
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Short me... OMIM:615777
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Postnatal growth ... OMIM:619135
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... OMIM:149730
Anauxetic Dysplasia 3
Short metacarpal, Severe short stature, Hip subluxation, Squared iliac bones, Femoral bowing, Gen... OMIM:618853
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... OMIM:200990
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Bone cyst, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, Inflammat... OMIM:181000
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis OMIM:300991
Sanjad-Sakati Syndrome
Hypoparathyroidism, Intestinal obstruction, Hypoplasia of penis, Short stature, Abnormal dental e... ORPHA:2323
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... OMIM:210720
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Keratitis, Abnormality of the anterior pituitary, Enlarged lacr... ORPHA:449563
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Polycystic o... ORPHA:2298
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Intractable diarrhea, Arth... OMIM:226730
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Eczema, Recurrent pneumonia,... OMIM:617751
Liver Disease, Severe Congenital
Chronic gastritis, Hypospadias, Eczema, Pneumonia, Biliary hyperplasia, Diarrhea, Peritonitis, Hy... OMIM:619991
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Skin rash... ORPHA:2909
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Blau Syndrome
Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Retrobulbar optic neur... ORPHA:90340
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Decreased response to growth hormone stimulation test, High, narrow palate, Down... ORPHA:96182
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Bowing of the legs, Osteoarthritis, Enamel hypominer... OMIM:307800
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Postnatal growth retardation, Wide mouth, Gastroesophageal reflux, Esophagitis ORPHA:79350
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Abnormal ... ORPHA:221016
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Delayed epiphyseal ossification, Rickets, Sparse bone t... OMIM:277440
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... ORPHA:90291
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Abnormal ... ORPHA:221008
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Williams Syndrome
Osteopenia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Chronic otitis media, Increase... ORPHA:904
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Seco... OMIM:264700
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Myopathy, Gastric ulcer, Constipation ORPHA:3463
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... OMIM:274000
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... ORPHA:85450
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o... OMIM:613807
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabs... OMIM:250250
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone tr... ORPHA:289157
Alkuraya-Kucinskas Syndrome
Small scrotum, Overlapping toe, Clinodactyly, Adducted thumb, Cutaneous syndactyly, High palate, ... OMIM:617822
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a... ORPHA:95699
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:600081
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Esophageal neoplasm, Che... ORPHA:125
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... ORPHA:3103
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Abnormal sperm motility, Female infertility, Clubbing, ... ORPHA:244
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin... OMIM:135900
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ... OMIM:241530
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Catel-Manzke Syndrome
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Cleft u... OMIM:616145
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, High, narrow palate, Abnormal finger morphology, Apl... ORPHA:3472
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, High palate, Foot oligodactyly, Ap... OMIM:276820
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Narrow palate, Femoral bowing, Macroglossia, Short long bone, Hypoplasia of ... OMIM:617022
Campomelic Dysplasia
Bowing of the long bones, Short stature, Small abnormally formed scapulae, Male pseudohermaphrodi... ORPHA:140
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614935
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo... OMIM:615503
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... OMIM:618019
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... OMIM:600920
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Enlarged cerebellum ORPHA:85165
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Recta... ORPHA:2538
Junctional Epidermolysis Bullosa With Pyloric Atresia
Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammation, Congenital pylori... ORPHA:79403
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... OMIM:304120
Ulbright-Hodes Syndrome
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal external genitalia... ORPHA:3404
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Di... OMIM:219700
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Overlappin... ORPHA:487796
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Cog1-Cdg
Cerebellar dysplasia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Rhizomelia, Coxa va... ORPHA:263508
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cry... OMIM:227650
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Male infertility OMIM:619607
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Skin rash, Pustule, Myocarditis, Oral ulcer, Enlargeme... ORPHA:50918
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Recurrent pneumonia, Osteopetrosis OMIM:612301
Sarcoidosis
Abnormality of the gastrointestinal tract, Maculopapular exanthema, Facial palsy, Erythema nodosu... ORPHA:797
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Chronic ... OMIM:244400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Esophageal varix, Growth delay, Azoospermia, Gastric ulcer, Bacterial endocarditis... ORPHA:2072
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Noonan Syndrome 1
Male infertility, Short stature, Hypospadias, Postnatal growth retardation, High, narrow palate, ... OMIM:163950
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal widening, Metaphyseal chondromatosis of radius, Short phalanx of finger, Genu varum, ... ORPHA:99646
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Cholangitis, Celiac disease, Hematemesis, Esophageal v... OMIM:301068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Anteriorly placed anus, Micrope... OMIM:201750
Aprosencephaly And Cerebellar Dysgenesis
Talipes equinovarus, Poorly formed metencephalon, Bifid uvula, Cerebellar dysplasia OMIM:601374
Cystinosis, Nephropathic
Male infertility, Short stature, Oral-pharyngeal dysphagia, Metaphyseal widening, Dysphagia, Genu... OMIM:219800
Pseudo-Torch Syndrome 1
Cleft lip, High palate, Cerebellar hypoplasia, Long philtrum OMIM:251290
Congenital Intrauterine Infection-Like Syndrome
ORPHA:1229

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 Ocln

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 Ocln.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inflammation-induced Occludin Downregulation Limits Epithelial Apoptosis by Suppressing Caspase-3 Expression. Gastroenterology (August 2019) Oclntm1c(EUCOMM)Wtsi Oclntm1a(EUCOMM)Wtsi 31401143

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Oclntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Oclntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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