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

IMPC Data Collections

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

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.

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
Congenital Intrauterine Infection-Like Syndrome
Cerebral cortical atrophy, Microcephaly, Cerebral calcification ORPHA:1229
Pseudo-Torch Syndrome 1
Long philtrum, Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Cerebral calcification, High pa... OMIM:251290

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, Abnormality of the gastric mucosa OMIM:175505
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Gastric Cancer
Stomach cancer OMIM:613659
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Diarrhea ORPHA:160148
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Recurrent pneumonia, Recurrent s... OMIM:616576
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Constipation, Gastroesophageal reflux, Diarrhea, Abnormality of the ... ORPHA:263665
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Gastrointestinal infarctions, Multiple bony cy... ORPHA:314652
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Corpus callosum atrophy, Dysphagia, Secon... OMIM:608809
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Diarrhea, Gastritis, Hypospadias, Shawl scrotum ORPHA:2575
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Chronic atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Di... OMIM:616100
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerost... ORPHA:809
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Reynolds Syndrome
Skin rash, Dysphagia, Gastroesophageal reflux, Xerostomia, Keratoconjunctivitis sicca, Abnormalit... ORPHA:779
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma OMIM:114500
Muir-Torre Syndrome
Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Neoplasm of the stomach, Colon ... ORPHA:587
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Facial palsy, Abnormality of the submandibular glands, Abnormality of th... ORPHA:79493
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Talipes equinov... OMIM:616531
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hep... OMIM:240300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Ileus, Vomiting, Myositi... ORPHA:37042
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation, Eczema, Microdontia, Widely spaced... OMIM:233810
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Ambiguous genitalia, Short philtrum, Cutaneous syndactyly,... OMIM:272440
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Skeletal muscle atrophy ORPHA:31
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Clubbing of fingers, Bronchiectasis, Thyroiditis, Villous at... OMIM:614700
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Ovarian neoplasm, Colorectal polyposis, Adenomatous... ORPHA:157798
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Rheumatoid arthritis, Chronic atrophic gastritis, X... ORPHA:227990
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Mild short stature, Short middle phalanx... OMIM:156500
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Cerebellar hypoplasia, Short stature, Postnatal growth retardation OMIM:616113
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly OMIM:608278
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Anterior pituitary dysgenesis, Rheumatoid arthritis, Hashimoto thyroiditis, Chroni... ORPHA:227982
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Myocarditis, Sinusitis, Vomiting, Osteolysi... ORPHA:73263
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Broad thumb, Drooling, Dysphagia, Growth delay, Gastroesophageal reflux, Abnormal ... ORPHA:576283
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Exocrine pancreatic insufficiency, Shawl scrotum, Diarrhea, Gastritis, Recurrent pne... OMIM:219721
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus... OMIM:604213
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric ulcer, Gastric hypertrophy, Metacarpal periosteal thickening, Metata... OMIM:161700
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Short philtrum, Poor eye contact, Recurrent otitis media, Postnatal... ORPHA:254531
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Femoral bowing, ... OMIM:613091
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Short philtrum, Narrow mouth, Recurrent otitis media, Postnatal growth retardatio... ORPHA:96184
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Roifman Syndrome
Long philtrum, Short toe, Delayed proximal femoral epiphyseal ossification, Downturned corners of... ORPHA:353298
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia... OMIM:612447
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia, Cerebellar atrophy ORPHA:276183
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Melioidosis
Prostatitis, Cutaneous abscess, Acute infectious pneumonia, Pneumonia, Septic arthritis, Foot ost... ORPHA:31202
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Camptodactyly, Pyloric stenosis, Atopic dermatitis OMIM:614262
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Acne ORPHA:3000
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis, Facial palsy ORPHA:252164
Cornelia De Lange Syndrome 5
Cryptorchidism, Thin vermilion border, Long philtrum, Toe syndactyly, Downturned corners of mouth... OMIM:300882
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Microcephaly, Postnatal growth retardation, Delayed puberty, Short stature, Eczema, ... OMIM:618985
Ethylene Glycol Poisoning
Vomiting, Nausea, Gastritis, Facial palsy ORPHA:31826
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Recurrent otitis media, Hypoplastic inferior ilia, Metaphys... OMIM:608940
Syndromic Diarrhea
Villous atrophy, Colitis, Hypoplasia of the thymus, Gastritis, Short stature, Intrauterine growth... ORPHA:84064
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Postnatal growth retardation, External genital hypoplasia, Short stature, Short t... OMIM:612947
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Bilateral cryptorchidism, Thin upper lip vermilion, High palate, Pyloric stenosis ORPHA:314575
Chromosome 4Q21 Deletion Syndrome
Cerebral hypoplasia, Short philtrum, Downturned corners of mouth, Postnatal growth retardation OMIM:613509
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Short stature, Hypogonadism, Li... ORPHA:281090
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Pyloric stenosis, Postnatal growth retardation, Talipes equinovarus, Clinodactyly ... OMIM:617219
Cornelia De Lange Syndrome 2
Downturned corners of mouth, Gastroesophageal reflux, Microcephaly, Smooth philtrum, Postnatal gr... OMIM:300590
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Seckel Syndrome 1
Enamel hypoplasia, Cryptorchidism, Proportionate short stature, Dental crowding, Postnatal growth... OMIM:210600
Mental Retardation, Autosomal Dominant 48
Open mouth, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasi... OMIM:617751
Autoimmune Lymphoproliferative Syndrome
Thyroiditis, Hepatocellular carcinoma, Panniculitis, Uveitis, Colitis, Glomerulonephritis, Hepati... ORPHA:3261
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Marden-Walker Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Postnatal growth retardation, Inferior vermis hypopl... OMIM:248700
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Postnatal growth retardation, Metaphyseal dysplasia, Intrauterine growth retardat... OMIM:614732
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Poor eye contact, Constipation, Gastroesophageal reflux, Wide mouth, Postnatal gr... OMIM:615419
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Oral cleft, ... ORPHA:2363
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Talipes equinovarus, Pierre-Robin sequence, Rhizomelia, High palate, Camptodactyl... OMIM:611209
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
15Q24 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Postnatal growth retardation, Long philtrum, Abnormal thumb morphol... ORPHA:94065
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Severe short stat... ORPHA:3344
Postaxial Acrofacial Dysostosis
Cryptorchidism, Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Supe... OMIM:263750
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Cerebellar hypoplasia, Postnatal growth retardation, Colitis, Intrauterine g... OMIM:615190
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, ... ORPHA:254525
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Aplas... OMIM:200700
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Al Amyloidosis
Macroglossia, Gastrointestinal hemorrhage, Dysphagia, Abnormality of the gastrointestinal tract, ... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Mic... OMIM:613155
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing,... OMIM:602111
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Polydactyly, Postnatal g... ORPHA:397590
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Glossoptosis, Cleft pal... ORPHA:440354
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Carious teeth, Toe syndactyly, Transverse vaginal septum, Split hand, Selective t... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Split hand, Xerostomia, Rectovaginal fistula, Micrope... OMIM:129900
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Narrow mouth, Deep philtrum, Absent ossification of capital femoral epiphysis, Tibia... OMIM:245160
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Sandal gap, Short distal phalanx of finge... OMIM:311300
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Thin bony cortex, Delayed epiphy... ORPHA:79106
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemi... ORPHA:289176
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Postnatal growth ret... OMIM:615777
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hip dysplasia, Decreased testicular size, Cerebellar dysplasia, Microcephaly, Short stature, High... ORPHA:457240
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Delayed puberty, Short stature OMIM:208060
Weismann-Netter Syndrome
Squared iliac bones, Severe short stature, Anterior tibial bowing, Fibular bowing, Delayed erupti... OMIM:112350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93324
Sanjad-Sakati Syndrome
Cryptorchidism, Thin vermilion border, Abnormal dental enamel morphology, Long philtrum, Hypopara... ORPHA:2323
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Abnormal cerebellar vermis morphology, Type II lissencephaly, Postnat... ORPHA:300570
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Pr... OMIM:210720
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Abnormal tongue morphology, Aplasia/Hypoplasia of the corpus callo... ORPHA:531151
Catel-Manzke Syndrome
Cryptorchidism, Talipes equinovarus, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphala... OMIM:616145
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Hypoplasia of the corpus callosum, Postnata... OMIM:241410
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Wide mouth, Postnatal growth retardation, Hypospadias, Micr... ORPHA:79350
Bronchogenic Cyst
Abnormal stomach morphology, Dysphagia, Abnormal esophagus morphology, Pneumonia, Abnormality of ... ORPHA:2357
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Acrocallosal Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of teeth, Open mouth, Postnatal growth retardat... OMIM:200990
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Recurrent pneumonia, Short 5th finger, Abnormal periventricular white matter morp... ORPHA:500159
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Oligodontia, Trident hand, Short middle phalan... OMIM:618853
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Chronic rhinitis, Male in... OMIM:612444
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, Bowing of ... OMIM:307800
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Absent proximal phalanx of thumb, Partial duplication of thumb ... OMIM:149730
Silver-Russell Syndrome
Cryptorchidism, Thin vermilion border, Abnormal vagina morphology, Abnormal appendicular skeleton... ORPHA:813
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Scleroderma
Pericarditis, Narrow mouth, Abnormal large intestine morphology, Myocarditis, Osteomyelitis, Inte... ORPHA:801
Insulin-Resistance Syndrome Type B
Skin rash, Enlarged ovaries, Abnormal salivary gland morphology, Pneumonia, Polycystic ovaries, O... ORPHA:2298
Igg4-Related Kidney Disease
Prostatitis, Sialadenitis, Pericarditis, Arteritis, Abnormality of the anterior pituitary, Inters... ORPHA:449395
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Postnatal growth retardation, Iliac cres... OMIM:223800
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Bronchiectasis, Bon... OMIM:181000
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the anterior pituitary, Thyro... ORPHA:449563
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Delayed puberty, High pal... ORPHA:1772
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphyseal stippling, Cerebell... OMIM:619135
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Esophageal atresia, Congenital pyloric atr... OMIM:226730
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Porencephalic cyst, Arrhinencephaly, Fusion of the left... OMIM:156810
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Talipes equinovarus, Cutaneous syndactyly, Aplasia/Hypoplasia of the corpus ... OMIM:617822
Joubert Syndrome 23
Polydactyly, Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Toe clinodactyly, Small epiphyses, Tibial metaphy... ORPHA:457395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Rothmund-Thomson Syndrome
Skin rash, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Hypoplasi... ORPHA:2909
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Microcephaly, Thick vermi... OMIM:619184
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Short philtrum, Abnormality of the Leydig cells, Narrow mouth, Dental crowding, T... ORPHA:3063
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Small epiphyses, D... OMIM:611717
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Dental crowding... ORPHA:96182
Pitt-Hopkins Syndrome
Cryptorchidism, Short metatarsal, Postnatal growth retardation, Broad fingertip, Micropenis, Fing... ORPHA:2896
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Hypoplasia of teeth, Recurrent otitis media, Scrotal hypoplasia, Postnatal growth... ORPHA:2728
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Femoral bowing, Thickene... OMIM:601559
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Hypoplasia of the corpus callosum, Enlarged cerebellum, Tibial bowi... ORPHA:85165
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Delayed puber... ORPHA:79239
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Talipes equinovarus, Widely-spaced maxillary central incisors, Grow... OMIM:301040
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Rickets, Thin bony cortex, Delayed e... OMIM:277440
Williams Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Cerebral cortical at... ORPHA:904
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Cartilage-Hair Hypoplasia
Short palm, Absent pubertal growth spurt, Aganglionic megacolon, Esophageal atresia, Metaphyseal ... OMIM:250250
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis OMIM:618801
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Abno... ORPHA:221016
Treacher Collins Syndrome 1
Cryptorchidism, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate, Cleft ... OMIM:154500
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Abno... ORPHA:221008
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:168558
Kyphomelic Dysplasia
Radial bowing, Disproportionate short stature, Short femur, Dumbbell-shaped humerus, Short humeru... OMIM:211350
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Thick vermilion border, Tented upper lip vermilion, Short metacarpal, Small epip... OMIM:616723
Systemic Sclerosis
Pericarditis, Narrow mouth, Abnormal esophagus morphology, Abnormal large intestine morphology, M... ORPHA:90291
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype,... ORPHA:90793
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:289548
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Rickets, Thin bony cortex, Delayed epiphyseal ossif... OMIM:264700
Blau Syndrome
Skin rash, Camptodactyly of finger, Iridocyclitis, Pericarditis, Retrobulbar optic neuritis, Abno... ORPHA:90340
Aromatase Deficiency
Cryptorchidism, Genu valgum, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrhea, Fe... ORPHA:91
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Tarsal synostosis, Narrow mouth, Camptodactyly, Delayed puberty, Arnold-Chiari ma... ORPHA:95699
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Recurrent sinusitis, Chronic rhinitis, Male infertility OMIM:617091
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Microcephaly, Esophage... OMIM:206900
Yunis-Varon Syndrome
Cryptorchidism, Thin vermilion border, Slender long bones with narrow diaphyses, Postnatal growth... ORPHA:3472
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Rickets, Osteomalacia, Thin bony cortex, Delayed ep... ORPHA:289157
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Immotile sperm, Recurrent sinusitis, Rhinitis, Male infertility OMIM:614874
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Talipes equinovarus, Camptodactyly of toe, Denta... OMIM:600920
Roberts Syndrome
Cryptorchidism, Postnatal growth retardation, Sandal gap, Phocomelia, Clitoral hypertrophy, High ... ORPHA:3103
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Sparse bone trabeculae, Thin bony cortex, Delayed epiphyseal ossification OMIM:600081
Campomelic Dysplasia
Ambiguous genitalia, Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Cleft pa... ORPHA:140
Wolfram Syndrome
Gastric ulcer, Male hypogonadism, Gastrointestinal hemorrhage, Constipation, Cerebral cortical at... ORPHA:3463
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Hypodysplasia of the corpus callosum, Long philtrum, Bifid s... OMIM:257300
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Morbilliform rash, Lymphadenitis, Tendonitis, Mac... ORPHA:31205
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossificatio... OMIM:300554
Coffin-Siris Syndrome 1
Cryptorchidism, Intestinal malrotation, Postnatal growth retardation, Sandal gap, Aplasia/Hypopla... OMIM:135900
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Short sternum, Large hands, Smooth philtru... ORPHA:2563
Bloom Syndrome
Skin rash, Azoospermia, Recurrent gastroenteritis, Oligospermia, Growth delay, Gastroesophageal r... ORPHA:125
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Narrow palate, Split hand, Scrotal hypoplasia, Phocomelia, ... OMIM:276820
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone... OMIM:241530
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Preaxial polydactyly, Postaxial polydactyly, Pancreatic fibrosis, Short long... OMIM:615503
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Reduced sperm motility, Bronchiectasis, Immotile sperm, Chronic sinusitis, M... OMIM:613807
Crome Syndrome
Microcephaly, Cerebellar dysplasia, Short stature OMIM:218900
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Chordee, Bilateral cryptorchidism, Postnatal growth retardation, Intra... ORPHA:96179
Primary Ciliary Dyskinesia
Bronchiectasis, Recurrent otitis media, Chronic otitis media, Intestinal malrotation, Female infe... ORPHA:244
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Campomelic Dysplasia
Disproportionate short-limb short stature, Sex reversal, Hypoplastic scapulae, Shortening of all ... OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Cerebellar malformation, Pachygyria, Type II lissencephaly, Hypoplasia of the cor... OMIM:236670
Neurofibroma
Enlargement of parotid gland, Recurrent otitis media, Intestinal bleeding, Multiple intestinal ne... ORPHA:252183
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Cavum septum pellucidum, Arnold-Chiari malformation, Pachygyr... OMIM:304050
Cerebrocostomandibular Syndrome
Long philtrum, Porencephalic cyst, Congenital hip dislocation, Anal stenosis, Gastroesophageal re... OMIM:117650
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal periventricular white matter morphology, Downturned corners of mouth, Camptodactyly, Pos... ORPHA:487796
Cog1-Cdg
Talipes equinovarus, Long philtrum, Temporal cortical atrophy, Narrow mouth, Pierre-Robin sequenc... ORPHA:263508
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Absent radius, Short stature, Short thumb, Absent... OMIM:227650
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Abnormal sacroiliac joint morphology, Split hand,... ORPHA:1860
Dent Disease 1
Rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trabeculae OMIM:300009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence of cerebellar v... OMIM:613150
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Femoral bowing, Micropenis, Short femur, Pachygyria, Enlarged metaphyses, Large h... OMIM:210710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Tarsal synostosis, Chordee, Camptodactyly, Scrotal hypoplasia, Arnold-Chiari malf... OMIM:201750
Ulbright-Hodes Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Postnatal growth retardation, Birth length l... ORPHA:3404
Bannayan-Riley-Ruvalcaba syndrome
Long penis, Intussusception, Hematochezia, Macrodactyly, Hashimoto thyroiditis, Postnatal growth ... OMIM:153480
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Bowel incontinence, A... ORPHA:512
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93325
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Rocker bottom foot, Humeroradial synostosis, Fused labia minora, Camptodactyly, Hy... OMIM:207410
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Urinary bladder inflammation, Congenital pyloric atresia, Oral mucosal blister... ORPHA:79403
Acrofacial Dysostosis, Cincinnati Type
Acetabular dysplasia, Short stature, Cleft palate, Microcephaly, Femoral bowing OMIM:616462
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Short stature OMIM:615066
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Open mouth, Chordee, Dental crowding, Camptodactyly, Cerebral w... ORPHA:261537
Cystic Fibrosis
Recurrent pneumonia, Clubbing of fingers, Exocrine pancreatic insufficiency, Bronchiectasis, Meco... OMIM:219700
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Antley-Bixler Syndrome
Camptodactyly of finger, Long philtrum, Narrow mouth, Cleft palate, Arachnodactyly, Femoral bowin... ORPHA:83
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Seborrheic dermatitis, Narrow mouth, Overlapping toe, Superficial dermal perivasc... ORPHA:83617
Geroderma Osteodysplasticum
Periodontitis, Camptodactyly, Severe short stature, Tibial bowing, Microcephaly, Femoral bowing, ... OMIM:231070
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Femoral bowing, Severe short stature OMIM:126550
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Open mouth, Chordee, Dental crowding, Camptodactyly, Agenesis o... ORPHA:2152
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Bifid uvula, Talipes equinovarus OMIM:601374
Noonan Syndrome 1
Cryptorchidism, High palate, Dental malocclusion, Synovitis, Postnatal growth retardation, Radial... OMIM:163950
Kabuki Syndrome 1
Cryptorchidism, Short 5th finger, Congenital hip dislocation, Anal stenosis, Anoperineal fistula,... OMIM:147920
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Chronic otitis media, Pneumonia, Chronic rhinitis, Sinusitis, ... OMIM:244400
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Drooling, Dysphagia, Gastroesophageal reflux, Cerebellar vermis hypoplasi... ORPHA:98889
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Oral ulcer, Abnormality of the gastrointestinal tract, Enlargement of parotid... ORPHA:50918
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Elevated circulating thyroid-stimulating hormone concentration, Hallux valgu... OMIM:256040
Cystinosis, Nephropathic
Genu valgum, Male hypogonadism, Exocrine pancreatic insufficiency, Dysphagia, Growth delay, Cereb... OMIM:219800
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Recurrent pneumonia OMIM:612301
Dent Disease
Rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trabeculae ORPHA:1652
Sarcoidosis
Enlarged lacrimal glands, Bronchiectasis, Abnormality of the gastrointestinal tract, Bone cyst, U... ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Azoospermia, Hypoplasia of the corpus callosum, Growth delay, Cholelithiasis, Esop... ORPHA:2072
Osteogenesis Imperfecta
Abnormality of long bone morphology, Abnormality of tibia morphology, Carious teeth, Abnormal den... ORPHA:666
Congenital Intrauterine Infection-Like Syndrome
Cerebral cortical atrophy, Microcephaly, Cerebral calcification ORPHA:1229
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Gingiv... ORPHA:64
Pseudo-Torch Syndrome 1
Long philtrum, Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Cerebral calcification, High pa... OMIM:251290

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

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

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