Gene Summary

Name:
ring finger protein 135
Synonyms:
2410006N06Rik,  U 2-3-0,  MGC13061,  0610037N03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Rnf135em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Rnf135em1(IMPC)Tcp HOM Late adult 1.97×10-07
abnormal skin morphology Rnf135em1(IMPC)Tcp HOM Early adult 0.00
cataract Rnf135em1(IMPC)Tcp HOM Late adult 7.30×10-05
small uterus Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
small ovary Rnf135em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Rnf135em1(IMPC)Tcp HOM Late adult 0.00
decreased grip strength Rnf135em1(IMPC)Tcp HOM Late adult 1.22×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

187 Images

Histopathology

Images

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Gross Pathology and Tissue Collection

Images

13 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Rnf135 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 Rnf135 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634

The table below shows human diseases predicted to be associated to Rnf135 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Short thumb OMIM:274205
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... OMIM:300510
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Amenorrhea, Abnorm... ORPHA:3130
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Perrault Syndrome 4
Cognitive impairment, Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary... OMIM:615300
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Cognitive impairment OMIM:615995
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Satoyoshi Syndrome
Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Mal... OMIM:600705
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Cataract, Anal atresia, Abnormality of femur morphology, Low... ORPHA:2310
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Prostate cancer, O... ORPHA:157798
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Anal atresia, Hypoplasia of penis, Genu... ORPHA:1381
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Aniridia, ... OMIM:194072
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormal rib morphology, Bicornuate uterus, Hypoplasia of the uterus, Cleft palate OMIM:601076
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Kennerknecht Syndrome
Toe syndactyly, Malrotation of colon, High palate, Toe clinodactyly, Hypoplasia of the uterus, Ag... OMIM:600908
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract ORPHA:2278
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Gastroesophageal reflux, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Corneal opacity, Testicular seminoma, Hypogonadism ORPHA:281090
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma, Barrett esophagus, Vagi... ORPHA:523
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Hypogonadism, High palate ORPHA:2528
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Seckel Syndrome 7
Clinodactyly, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Hip dysplasia OMIM:614851
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism... OMIM:240950
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Arachnodactyly, ... ORPHA:243
Morm Syndrome
Micropenis, Cataract, Aggressive behavior ORPHA:75858
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, ... ORPHA:247768
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Short thumb, Cryptorchidism ORPHA:2489
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Bone marrow hypocellularity, Long thumb OMIM:619151
Popliteal Pterygium Syndrome
Intercrural pterygium, Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Hypoplasia o... OMIM:119500
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia OMIM:615363
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Cataract, Camptodactyly of finger, Camptod... OMIM:619420
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Cataract, Secondary growth hormone deficiency, Increased cir... ORPHA:2410
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
46,Xy Sex Reversal 4
High palate, Hypoplastic labia majora, Agonadism, Anal atresia, Gonadal dysgenesis, Sex reversal,... OMIM:154230
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Cataract, Secondary amenorrh... ORPHA:3085
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Hypospadias, Anal atresia, Anteriorly pla... OMIM:309801
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Abnormality of ... ORPHA:543
Senior-Loken Syndrome
Premature ovarian insufficiency, Cataract, Cone-shaped epiphysis ORPHA:3156
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Irregular menstruation, Amenorrhea, Microcornea, Female infertility, Premature ovari... OMIM:110100
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cryptorchidism, Cataract, Hand polydactyly, Hypoplasia of penis... ORPHA:2377
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Split foot, Hand monodactyly OMIM:183800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Int... ORPHA:1876
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Cataract, Hypogonadism OMIM:268050
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Hallux valgus, Bilateral cr... ORPHA:1772
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Abnormal morphology of female internal genitalia, Cataract, Tracheoesophageal ... ORPHA:1839
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Galactokinase Deficiency
Hepatosplenomegaly, Hyperinsulinemia, Psychomotor deterioration, Cataract, Nuclear cataract, Prem... ORPHA:79237
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Short femoral neck,... ORPHA:168549
Ménétrier Disease
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... ORPHA:2494
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Esophagitis, Abnormality of the humerus, Rectovaginal fistula, Phocomelia, Intestina... ORPHA:2538
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Contracture of the proximal in... ORPHA:2232
Bardet-Biedl Syndrome
Finger syndactyly, Cryptorchidism, Hypoplasia of penis, Postaxial hand polydactyly, Hypogonadism,... ORPHA:110
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Microgastria-Limb Reduction Defects Association
Absent thumb, Absent gallbladder, Hypoplasia of the ulna, Splenogonadal fusion, Hand oligodactyly... OMIM:156810
Pseudopseudohypoparathyroidism
Brachydactyly, Cognitive impairment, Pseudohypoparathyroidism, Short metacarpal, Cataract, Short ... OMIM:612463
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Cataract, Tapered finger, Splenomegaly, Hamartomatous p... ORPHA:2930
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Mend Syndrome
High palate, 2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Cataract, Polydactyly, Long... OMIM:300960
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Short distal phalanx of finger, Hypogonadism OMIM:302950
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Congenital Tufting Enteropathy
Punctate keratitis, Cataract, Abnormal small intestinal mucosa morphology, Anal atresia, Irritabi... ORPHA:92050
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Cataract, Mental deterioration, Hypoplastic scapulae, Macroglossia, Dysphagia ORPHA:79107
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Cataract, Extern... ORPHA:559
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Aplasia of the uterus, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger s... ORPHA:3320
Coffin-Siris Syndrome 9
Clinodactyly, High palate, Delayed puberty, Short distal phalanx of finger, Decreased response to... OMIM:615866
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Scleroderma
Abnormal stomach morphology, Cognitive impairment, Abnormality of the gastrointestinal tract, Anx... ORPHA:801
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Dementia, Aggressive behavior, Opacif... OMIM:310600
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Sclerocornea, Microcornea, Cataract, Corneal opacity, Clinoda... ORPHA:2557
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Dementia, Cataract, Abnormality of the thyroid gland, Dysphagia, Diabetes mellitus, Premature ova... OMIM:609286
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Postaxial foot polydactyly, Abnormality of the hypothalamus-pitui... ORPHA:139471
Dystonia, Juvenile-Onset
Cataract, Achalasia, Hypoplastic scapulae, Cleft palate OMIM:607371
Zellweger Syndrome
High palate, Cognitive impairment, Primary adrenal insufficiency, Posterior embryotoxon, Epiphyse... ORPHA:912
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Hypothyroidism, Cognitive impairment, Pseudohypoparathyroidism, Short metacarpal, ... OMIM:103580
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... OMIM:241080
Ulnar-Mammary Syndrome
Ectopic anus, Cryptorchidism, Hypoplasia of penis, Anal atresia, Abnormality of the uterus, Abnor... ORPHA:3138
Bardet-Biedl Syndrome 9
Brachydactyly, Irregular menstruation, Postaxial foot polydactyly, Cataract, Astigmatism, Polydac... OMIM:615986
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypothyroidism, Cognitive impairment, Pseudohypoparathyroidism, Short metacarpal, ... OMIM:612462
Hepatoportal Sclerosis
Cognitive impairment, Gastrointestinal hemorrhage, Splenomegaly, Esophageal varix, Gastric varix,... ORPHA:64743
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia, Aplasia/Hypoplasia of the patella ORPHA:1069
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Cryptorchidism, Microcornea, Cataract, Aplasia/Hypoplasia involving the pelvis, Vag... ORPHA:3301
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Clinodactyly, High palate, Bifid uvula, Cryptorchidism, Precocious puberty, Pyloric stenosis, Sma... ORPHA:96184
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Cataract, Corneal opacity, Tapered finger, External genital hypoplasia, Short fin... ORPHA:1867
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Astigmatism, Micropenis, Jejunal atresia, Ileal atresi... OMIM:618820
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Memory impairment, Cataract, Mental deterioration, Type II diabetes... ORPHA:79095
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Clinodactyly, Radial deviation of finger OMIM:188025
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Harrod Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Aganglionic megacolon, High, narrow pala... OMIM:601095
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Short 5th finger, Congenital hip dislocation, Pyloric stenosis OMIM:133705
Bardet-Biedl Syndrome 1
Brachydactyly, High palate, Foot polydactyly, Micropenis, Abnormality of the ovary, Cataract, Ast... OMIM:209900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Deformed radius, Aplasia of the ulna, Short 4th toe, Aplasia of th... OMIM:181450
Microphthalmia, Syndromic 9
Hypoplastic spleen, Cryptorchidism, Bicornuate uterus, Multilobulated spleen, Hypoplasia of the u... OMIM:601186
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Morphological abnormality of the gastrointestinal tract, Eso... ORPHA:1018
Cataract 47
Microcornea, Cataract OMIM:612018
Cowden Syndrome 5
High palate, Hypothyroidism, Cataract, Hyperthyroidism, Colonic diverticula, Ovarian cyst, Hamart... OMIM:615108
Cowden Syndrome 6
High palate, Hypothyroidism, Varicocele, Cataract, Hyperthyroidism, Colonic diverticula, Ovarian ... OMIM:615109
Phocomelia, Schinzel Type
Bowing of the long bones, Aplasia of the uterus, Hand oligodactyly, Cryptorchidism, Aplasia/Hypop... ORPHA:2879
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Duodenal adenocarcinoma, Multiple g... OMIM:174900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Duodenal polypo... ORPHA:220460
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Camptodactyly, Overlapping toe OMIM:614262
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Broad ischia, Flared metaphysis, Hypoplastic nipples, Irrit... ORPHA:79328
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cryptorchidism, Overlapping fingers, Cataract, Intestinal malrotation, ... OMIM:244300
Warburg Micro Syndrome 2
Hypoplastic labia majora, Developmental cataract, Small scrotum, Cryptorchidism, Microcornea, Cat... OMIM:614225
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia, Pyloric stenosis OMIM:617219
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing, Hematochezia, Gastrointestinal carcinoma, Cataract, Hamartomatous polyposis, Malabsorpt... OMIM:175500
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Missing ribs, Short ribs, Thin ribs, Anal atresia, Aplasia of the vagina, ... OMIM:271520
Peters Plus Syndrome
Brachydactyly, Toe syndactyly, Cryptorchidism, Microcornea, Cataract, Corneal opacity, Clinodacty... ORPHA:709
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Blindness-Scoliosis-Arachnodactyly Syndrome
Arachnodactyly, Cataract, Lens subluxation, Microphakia ORPHA:171844
Leopard Syndrome 1
Missing ribs, Cryptorchidism, Micropenis, Hypospadias, Aplasia of the ovary, Delayed menarche, De... OMIM:151100
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metacarpal, Cataract, Short phalanx of finger, Hypoplastic nipples, Short toe, Labial hypop... OMIM:211370
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Arachnodactyly, Pyloric stenosis, Slender toe OMIM:310400
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Trichothiodystrophy 3, Photosensitive
Developmental cataract, Cataract, Meckel diverticulum, Pyloric stenosis, Bilateral cryptorchidism OMIM:616395
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Tibial torsion, Hip dislocation, A... OMIM:274000
Lumbar Syndrome
Ectopic anus, Hypoplastic labia majora, Cryptorchidism, Micropenis, Anal atresia, Bifid uterus, B... ORPHA:83628
Myhre Syndrome
Brachydactyly, Bifid uvula, Short palm, Abnormality of epiphysis morphology, Abnormal penis morph... ORPHA:2588
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Dementia, Intussusception, Neoplasm of... ORPHA:512
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Peters-Plus Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Short toe, Cleft palate, Brachydactyly, Hypoplast... OMIM:261540
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Intestinal malrotation, 11 pairs of ribs, Congenital hip di... OMIM:258040
Cornelia De Lange Syndrome 1
Cryptorchidism, Clinodactyly of the 5th finger, Astigmatism, High, narrow palate, Cleft palate, H... OMIM:122470
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae, Precocious puberty, Hypospadias OMIM:615877
Codas Syndrome
Rectovaginal fistula, Developmental cataract, Delayed ossification of carpal bones, Absent epiphy... OMIM:600373
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Cutaneous syndactyly, Cryptorchidism, Tapered finger, Short thumb, Hypospadias, Aggr... OMIM:619148
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Splenomegaly, Abnormality of the parathyroid ... ORPHA:2969
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Preaxial polydactyly, Intestinal malrotati... OMIM:243605
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Trisomy 18P
Pyloric stenosis, Bilateral cryptorchidism, Abnormality of finger, High, narrow palate ORPHA:1715
Periventricular Nodular Heterotopia
Shoulder dislocation, Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Pyloric stenosis, Lymphadenopathy, Iris hypopigmentation ORPHA:381
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Hypospadias, High, narrow palate, Midgut malrotation, Py... ORPHA:2409
Smith-Lemli-Opitz Syndrome
Hammertoe, Gastrointestinal dysmotility, Cryptorchidism, Short thumb, Aggressive behavior, Self-m... OMIM:270400
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hip dislocat... OMIM:263750
Marden-Walker Syndrome
High palate, Cryptorchidism, Zollinger-Ellison syndrome, Micropenis, Hypospadias, High, narrow pa... OMIM:248700
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Short distal phalanx of the thumb, Short ribs, Short 4th metac... OMIM:109400
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Diabetes mellitu... OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Tetraamelia Syndrome 1
Adrenal gland agenesis, Cataract, Vaginal atresia, Anal atresia, Absent external genitalia, Hypop... OMIM:273395
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Hypothyroidism, Primary adrenal insufficiency, Cataract, Keratoconjunctivitis, ... OMIM:269200
Schinzel-Giedion Syndrome
High palate, Hepatoblastoma, Hypoplastic pubic bone, Central hypothyroidism, Micropenis, Overlapp... ORPHA:798
Jacobsen Syndrome
Broad hallux phalanx, Toe syndactyly, Ectopic anus, Missing ribs, Toe clinodactyly, Finger syndac... ORPHA:2308
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Anteriorly displaced genitalia, Aplasia/Hypoplasia involving the carpal bones, Ap... OMIM:276820
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Postaxial foot polydactyly, Accessory... ORPHA:564
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Clubbing, Proximal phalangeal periosteal thickening, Gastric ulcer, Metacarpal periosteal thicken... OMIM:161700
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Missing ribs, Supernumerary ribs, Anterior pituitary hypoplasia, S... OMIM:206900
Koolen-De Vries Syndrome
Hypothyroidism, Cryptorchidism, Cataract, Hypospadias, High, narrow palate, Arachnodactyly, Pylor... ORPHA:96169
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Cowden Syndrome
Brachydactyly, High palate, Colorectal polyposis, Cognitive impairment, Adenoma sebaceum, Abnorma... ORPHA:201
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias, Anal atresia OMIM:617466
Aniridia 2
Cataract, Aniridia OMIM:617141
Limb-Mammary Syndrome
Submucous cleft soft palate, Toe syndactyly, Aplasia of the uterus, Bifid uvula, Primary amenorrh... ORPHA:69085
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Low frustration tolerance, Astigmatism, Congenital hip dislocation, Contracture of t... ORPHA:457279
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Micropenis, Hypoplasia of the ovary, Genu valgum, Decr... OMIM:619321
Koolen-De Vries Syndrome
Slender finger, High palate, Cryptorchidism, Anxiety, Cataract, Conspicuously happy disposition, ... OMIM:610443
Microphthalmia, Syndromic 5
Cryptorchidism, Microcornea, Cataract, Micropenis, Ectopic posterior pituitary, Cleft palate OMIM:610125
Opitz-Kaveggia Syndrome
Clinodactyly, Narrow palate, Anal stenosis, Cryptorchidism, Radial deviation of finger, Intestina... OMIM:305450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Chronic Granulomatous Disease
Tracheoesophageal fistula, Splenomegaly, Malabsorption, Pyloric stenosis, Mediastinal lymphadenop... ORPHA:379
Townes-Brocks Syndrome
Hypothyroidism, Cryptorchidism, Clinodactyly of the 5th finger, Abnormal rib morphology, Abnormal... ORPHA:857
1P36 Deletion Syndrome
Hypothyroidism, Foot polydactyly, Cryptorchidism, 11 pairs of ribs, Clinodactyly of the 5th finge... ORPHA:1606
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Apert Syndrome
Synostosis of carpal bones, Ectopic anus, Bifid uvula, Finger syndactyly, Cutaneous syndactyly, C... OMIM:101200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Townes-Brocks Syndrome 1
Hypothyroidism, Cryptorchidism, 2-4 finger syndactyly, Bifid scrotum, Rectovaginal fistula, Pseud... OMIM:107480
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Hepatocellular carcinoma, Lymph node hypoplasia, Conjunctivitis OMIM:300755
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Thin ribs, Pyloric stenosis, Miscarriage ORPHA:169189
Jacobsen Syndrome
Brachydactyly, Missing ribs, Cryptorchidism, Microcornea, Clinodactyly of the 5th finger, Clitora... OMIM:147791
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormal rib morphology, Ambiguous genitalia, Cleft palate, Hip dislocation, Clit... ORPHA:818
Esophageal Atresia
Clinodactyly, Morphological abnormality of the gastrointestinal tract, Gastrointestinal carcinoma... ORPHA:1199
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Anterior pituitary hypoplasia, Cryptorchidism, Anxiety, Astigmatism, Corneal opac... ORPHA:464306
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Cleft palate, Bifid uterus ORPHA:2736
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Hypothyroidism, Chordee, Posterior pituitary hypoplasia, Cryptorchidism, Asti... ORPHA:268261
Arterial Tortuosity Syndrome
Hiatus hernia, Coxa valga, Keratoglobus, Rocker bottom foot, Clinodactyly of the 5th finger, Gast... ORPHA:3342
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Cryptorchidism, Tapered finger, High, narrow palate, Short toe, ... ORPHA:3472
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Cryptorchidism, Cataract, Hypoplasia of penis, External genital hypoplasia, Submucou... ORPHA:2250
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Coffin-Lowry Syndrome
Narrow iliac wing, High palate, Coxa valga, Short metacarpal, Tapered finger, Uterine prolapse, R... OMIM:303600
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Intestinal malrotation, Unilateral cleft palate, Bile duct... OMIM:301068
Cornelia De Lange Syndrome
Abnormality of the ulna, Primary amenorrhea, Cryptorchidism, Clinodactyly of the 5th finger, Abno... ORPHA:199
Progeroid Short Stature With Pigmented Nevi
Chordee, Allergic conjunctivitis, Cataract, Diabetes mellitus, Premature ovarian insufficiency, D... OMIM:176690
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Wolf-Hirschhorn Syndrome
Accessory spleen, Cryptorchidism, Short thumb, Hip dysplasia, Rib fusion, Cleft palate, Hip dislo... OMIM:194190
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the vagin... OMIM:146255
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Thin ribs, Pyloric stenosis, Genu valgum, Broad ribs OMIM:613848
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Accessory spleen, Cryptorchidism, Intestinal malrotation, Micropenis, Bifi... OMIM:618280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Abnormal pelvis bone ossification, Short palm, Short ribs, Cryptorchidism, Cataract... ORPHA:93271
Distal Monosomy 12Q
Unilateral cryptorchidism, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 3r... ORPHA:96149
Coffin-Siris Syndrome 1
Cryptorchidism, Sandal gap, Astigmatism, Aplasia/Hypoplasia of the distal phalanges of the toes, ... OMIM:135900
Bosma Arhinia Microphthalmia Syndrome
High palate, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptor... OMIM:603457
Charge Syndrome
Hypothyroidism, Cryptorchidism, Short thumb, Abnormal rib morphology, External genital hypoplasia... OMIM:214800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Hypoparathyroidism, Dia... ORPHA:2237
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Self-injurious behavior, Cataract, Corneal opacity, Anxiety... ORPHA:649
Chromosome 17Q12 Deletion Syndrome
High palate, Aplasia of the uterus, Short palm, Long toe, Cryptorchidism, Upper limb undergrowth,... OMIM:614527
Knobloch Syndrome
Pyloric stenosis, Cataract, Ectopia lentis, Lymphangioma ORPHA:1571
Frontometaphyseal Dysplasia 2
High palate, Bifid uvula, Dislocated radial head, Short metacarpal, Gastroesophageal reflux, Cong... OMIM:617137
Ulbright-Hodes Syndrome
High palate, Abnormal forearm bone morphology, Enlarged labia minora, Phocomelia, Short sternum, ... ORPHA:3404
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Pterygium, Intestinal atresia, Urethral stricture ORPHA:79403
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Unilateral brachydactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive ... ORPHA:1521
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Papillary cystadenoma of the epididymis, Absent vas deferens, Pyloric stenosis, D... ORPHA:93111
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Self-mutilation, High pal... OMIM:180849
Williams Syndrome
Hypothyroidism, Cryptorchidism, Clinodactyly of the 5th finger, Blue irides, Colonic diverticula,... ORPHA:904
Yunis-Varon Syndrome
Clinodactyly, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:216340
Neu-Laxova Syndrome 1
Clinodactyly, Toe syndactyly, Pterygium, Calcaneovalgus deformity, Finger syndactyly, Rocker bott... OMIM:256520
Microphthalmia, Syndromic 1
Clinodactyly, High palate, Ciliary body coloboma, Cryptorchidism, Microcornea, Radial deviation o... OMIM:309800
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Astigmatism, Gastroesoph... ORPHA:2729
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Clinodactyly of the 5th finger, Broad hallux, Aplasia of the vagina, Posta... ORPHA:457284
Exstrophy-Epispadias Complex
Male sexual dysfunction, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid penis, C... ORPHA:322
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Upper limb undergrowth, Abnormal vagina morphology, H... OMIM:236680
Viss Syndrome
Hypothyroidism, Bifid uvula, High, narrow palate, Macroglossia, Dysphagia, Genu valgum, Hip dyspl... OMIM:619472
Pontocerebellar Hypoplasia Type 7
High palate, Aplasia of the uterus, Cryptorchidism, Micropenis, Absent penis, Abnormal scrotal ru... ORPHA:284339
Mowat-Wilson Syndrome
Happy demeanor, Abnormality of enteric ganglion morphology, Cryptorchidism, Microcornea, Cataract... OMIM:235730
Mowat-Wilson Syndrome
Bifid uvula, Chordee, Gastrointestinal dysmotility, Cryptorchidism, Astigmatism, Tapered finger, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Chordee, Cryptorchidism, Astigmatism, Dysphagia, Hallux valgus, Submucous cleft of s... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Chordee, Cryptorchidism, Astigmatism, Dysphagia, Hallux valgus, Submucous cleft of s... ORPHA:261552
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abnormality of the urethra ORPHA:158684
Branchiooculofacial Syndrome
Malrotation of colon, Cryptorchidism, Clinodactyly of the 5th finger, Cataract, Gastroesophageal ... OMIM:113620
Ehlers-Danlos Syndrome, Vascular Type
Finger joint hypermobility, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Osteolytic ... OMIM:130050
Pallister-Killian Syndrome
Bifid uvula, Cryptorchidism, 11 pairs of ribs, Clinodactyly of the 5th finger, Macroglossia, Shor... OMIM:601803
Loeys-Dietz Syndrome
High palate, Bifid uvula, Arachnodactyly, Uterine rupture, Camptodactyly of finger ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Cognitive impairment, Cryptorchidism, Congenital hip dislocation, Hypospadias, Uterine prolapse, ... ORPHA:286
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism ORPHA:137634

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 Rnf135

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 Rnf135.

No publications found that use IMPC mice or data for Rnf135.

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MGI Allele Allele Type Produced
Rnf135em1(IMPC)Tcp Exon Deletion Mice, Tissue
Rnf135tm17(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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