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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
Cerebellar hypoplasia, High palate, Cleft lip, 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
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Gastric Cancer
Stomach cancer OMIM:613659
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... ORPHA:2494
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa mo... ORPHA:1876
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie... 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
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal skeletal muscle morphology, Intestinal perforation, Abnorm... ORPHA:314652
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Glandular hypospadias, Gastritis, Shawl scrotum, Hypospadias ORPHA:2575
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, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi... OMIM:614326
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,... ORPHA:809
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Dental m... ORPHA:83451
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... ORPHA:779
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Uveitis,... OMIM:614700
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Rec... OMIM:147060
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Male hypogonadism, Diarrhea, Chronic mucocutaneous candidiasi... OMIM:240300
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Skeletal muscle atrophy ORPHA:31
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Hepatitis, Secr... ORPHA:37042
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma OMIM:114500
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck... OMIM:156500
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage... ORPHA:73263
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 17
Male infertility OMIM:617214
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening... OMIM:161700
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Xerostomia, Hepatitis, Anterior pituitary d... ORPHA:227990
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Femoral b... ORPHA:174
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Xerostomia, Hepatitis, Anterior pituitary d... ORPHA:227982
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Intractable diarrhea, Diarrhea, Anoperineal fistula, Pustular rash, Vomiting, Osteomal... OMIM:619381
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing... ORPHA:93356
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Overlapping fingers, Absent uvula, Cerebellar... OMIM:616531
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Alpha-1-Antitrypsin Deficiency
Gastric varix, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Recurrent otitis media, Postnatal grow... ORPHA:96184
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
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
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Filippi Syndrome
2-4 toe syndactyly, Cerebellar atrophy, Finger clinodactyly, Postnatal growth retardation, Intrau... OMIM:272440
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardatio... ORPHA:254531
Benign Schwannoma
Abnormal esophagus morphology, Facial palsy, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Prostatitis, Acute infect... ORPHA:31202
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femora... OMIM:613091
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility ORPHA:276183
Syndromic Diarrhea
Intractable diarrhea, Intrauterine growth retardation, Villous atrophy, Hypoplasia of the thymus,... ORPHA:84064
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Cerebellar atrophy, Hepatitis, Atopic derm... OMIM:615846
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Talipes equinovarus, Tapered finger, Hip dysplasia, Clinodactyly of... OMIM:617219
Ethylene Glycol Poisoning
Vomiting, Gastritis, Facial palsy, Nausea ORPHA:31826
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Radial bowing, Short tibia, S... OMIM:201250
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Roifman Syndrome
Epiphyseal dysplasia, Irregular capital femoral epiphysis, Recurrent pneumonia, Short toe, Eczema... ORPHA:353298
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic... ORPHA:64744
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motili... OMIM:620356
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Carious teeth, Cryptorchidism, Kerat... ORPHA:2363
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Red... OMIM:620438
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Cryptorchidism, Fibula... OMIM:612447
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dysplasia, Azoos... ORPHA:8
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Premature ovarian insufficiency, Gastritis, Ne... ORPHA:3261
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Postnatal growth retardation, Delayed puberty, Short stature, Celiac disea... OMIM:618985
Trichorhinophalangeal Syndrome, Type Ii
Carious teeth, Hydrometrocolpos, Recurrent otitis media, Cone-shaped epiphyses of the phalanges o... OMIM:150230
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Marden-Walker Syndrome
High, narrow palate, Inferior cerebellar vermis hypoplasia, Long philtrum, Postnatal growth retar... OMIM:248700
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the gastrointestinal tract... ORPHA:85443
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Po... OMIM:263750
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipes equinovarus, Hi... OMIM:206920
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Growth delay, Secretory diarrhea, Intrauterine growth retardation, Villous at... OMIM:619573
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Dislocated r... OMIM:210600
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Arteriosclerosis, Severe Juvenile
Delayed puberty, Hip dysplasia, Short stature, Short phalanx of finger, Gastric ulcer OMIM:208060
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Cerebellar hypoplasia, Colitis, Es... OMIM:615190
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Postnatal growth retardation, Intrau... ORPHA:397590
Bronchogenic Cyst
Pneumonia, Abnormal stomach morphology, Abnormal esophagus morphology, Abnormality of the diaphra... ORPHA:2357
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Disproportionate short-limb short stature, Micromelia, Metaphyseal spurs, Irregular epiphyses, Sm... OMIM:608728
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Xerostomia, Carious teeth, Anteriorly placed anus, Ectrodactyly, D... OMIM:604292
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Eiken Syndrome
Delayed epiphyseal ossification, Thin bony cortex, Abnormal bone ossification, Abnormal trabecula... ORPHA:79106
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Xerostomia, Carious teeth, Cryptorchidism, Absence of Stensen duct, Anal atresia,... OMIM:129900
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Viss Syndrome
Cleft soft palate, Genu valgum, Chronic constipation, Contracture of the proximal interphalangeal... OMIM:619472
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Arthritis, Abnormal... OMIM:181000
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... OMIM:618086
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eru... OMIM:149730
Anauxetic Dysplasia 3
Severe short stature, Broad middle phalanx of finger, Metaphyseal cupping, Gastroesophageal reflu... OMIM:618853
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Oral mucosal blisters, Esophageal atresia, Enam... OMIM:226730
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebellar dysp... ORPHA:457240
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovarie... ORPHA:2298
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Postn... OMIM:200990
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Postnatal growth retardation, Short first met... OMIM:619135
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... ORPHA:99429
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Sanjad-Sakati Syndrome
Abnormality of the dentition, Small hand, Long philtrum, Abnormal dental enamel morphology, Postn... ORPHA:2323
Igg4-Related Ophthalmic Disease
Keratitis, Sialadenitis, Orchitis, Abnormality of the extraocular muscles, Prostatitis, Abnormali... ORPHA:449563
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Wide mouth ORPHA:79350
Blau Syndrome
Posterior uveitis, Xerostomia, Keratitis, Camptodactyly of finger, Skin rash, Synovitis, Facial p... ORPHA:90340
Liver Disease, Severe Congenital
Pneumonia, Protein-losing enteropathy, Diarrhea, Vomiting, Pancreatic hypoplasia, Eczematoid derm... OMIM:619991
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Recurrent sinusitis, Chronic otitis media, Male infertility OMIM:300991
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Postnatal growth retardation, Esophagitis, Narrow mouth, Cryptorchidism, Hypospadia... ORPHA:96182
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Dia... ORPHA:2909
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Sia... ORPHA:449395
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Classic Galactosemia
Diarrhea, Vomiting, Cryptorchidism, Decreased fertility in females, Delayed puberty, Oligomenorrh... ORPHA:79239
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Micro... ORPHA:1772
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Cholecystitis, Esophageal varix OMIM:620367
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of teeth, Sparse bone t... OMIM:277440
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Postnatal growth retardation, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Kyphomelic Dysplasia
Disproportionate short stature, Radial bowing, Micromelia, Flared metaphysis, Cleft upper lip, Du... OMIM:211350
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... ORPHA:144
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... OMIM:154500
Williams Syndrome
Carious teeth, Open bite, Cryptorchidism, Myopathy, Polycystic ovaries, Everted lower lip vermili... ORPHA:904
Systemic Sclerosis
Intestinal bleeding, Narrow mouth, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bowe... ORPHA:90291
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Recurrent ... OMIM:608940
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Dia... ORPHA:221016
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Sparse bone trabeculae, Enam... OMIM:264700
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Dia... ORPHA:221008
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Chiari malformation, Clinod... ORPHA:95699
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Male infertility, Chronic rhinitis OMIM:618801
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Male infertility, Hypog... ORPHA:85450
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R... ORPHA:289176
Ciliary Dyskinesia, Primary, 34
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male infertility OMIM:617091
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Male infertility, Ambiguous genitalia, femal... ORPHA:91
Wolfram Syndrome
Gastrointestinal hemorrhage, Constipation, Gastric ulcer, Myopathy ORPHA:3463
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella OMIM:620197
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae OMIM:600081
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Aplasia/Hypoplasia of the pat... OMIM:135900
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation... ORPHA:3103
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Neurofibroma
Recurrent otitis media, Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal ne... ORPHA:252183
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Intestinal malrotation, Recurrent ot... ORPHA:244
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Osteomalacia, Sparse bone tr... ORPHA:289157
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Bloom Syndrome
Pneumonia, Gastroesophageal reflux, Neoplasm of the colon, Intrauterine growth retardation, Stoma... ORPHA:125
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Ambiguous genitali... OMIM:615503
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic sinusitis, Immotile sperm, Reduced sperm motility, Bro... OMIM:613807
Catel-Manzke Syndrome
Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Crypt... OMIM:616145
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Rhinitis, Male infertility OMIM:614874
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia ORPHA:85165
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Con... ORPHA:2538
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Congenital pyloric atresia, Oral mucosal blisters, Intestinal atres... ORPHA:79403
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl... ORPHA:512
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Ileus, Rectal p... OMIM:219700
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Postnatal growth retardation, Fibular aplasia, Enlarged labia minora, Narro... ORPHA:3404
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchiectasis, Male infertility OMIM:614935
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Cog1-Cdg
Cerebellar vermis hypoplasia, Rhizomelia, Long philtrum, Cerebellar dysplasia, Postnatal growth r... ORPHA:263508
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Cryptorchidism, Absent radius, Short stature, Hyperg... OMIM:227650
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Kikuchi-Fujimoto Disease
Malar rash, Enlargement of parotid gland, Skin rash, Oral ulcer, Pustule, Abnormality of the gast... ORPHA:50918
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Recurrent pneumonia, Osteopetrosis OMIM:612301
Sarcoidosis
Parotitis, Enlargement of parotid gland, Maculopapular exanthema, Abnormality of the gastrointest... ORPHA:797
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Male infertility OMIM:619607
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Azoospermia, Hallux valgus, Delayed puberty, Growth delay... ORPHA:2072
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Chiari malformation, Carpal synostosis, Cryptorchidism, Ovar... OMIM:201750
Cystic Fibrosis
Gastroesophageal reflux, Absent vas deferens, Bronchiectasis, Meconium ileus, Exocrine pancreatic... ORPHA:586
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Clinodactyly, Radial deviation of finger, Male infertil... OMIM:163950
Hardikar Syndrome
Vomiting, Unilateral cleft lip, Intestinal malrotation, Pyelonephritis, Cleft soft palate, Bilate... OMIM:301068
Ciliary Dyskinesia, Primary, 1
Pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis, Male infert... OMIM:244400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal dysplasia, Genu varum, Thin vermilion border, Short phalanx of finger, Metaphyseal ir... ORPHA:99646
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Talipes equinovarus, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Pseudo-Torch Syndrome 1
Cerebellar hypoplasia, High palate, Cleft lip, 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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