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Gene: Trim13 MGI:1913847

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Gene Summary

Name:
tripartite motif-containing 13
Synonyms:
RNF77,  LEU5,  3110001L12Rik,  Rfp2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small adrenal glands Trim13em1(IMPC)Tcp HOM Late adult 0.00
cataract Trim13em1(IMPC)Tcp HOM Late adult 1.76×10-07
small uterus Trim13em1(IMPC)Tcp HOM Late adult 0.00
abnormal mammary gland morphology Trim13em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Trim13em1(IMPC)Tcp HOM Late adult 0.00
abnormal lens morphology Trim13em1(IMPC)Tcp HOM Late adult 1.07×10-07
increased circulating triglyceride level Trim13em1(IMPC)Tcp HOM Early adult 2.44×10-07
abnormal seminal vesicle morphology Trim13em1(IMPC)Tcp HOM Late adult 0.00
enlarged thymus Trim13em1(IMPC)Tcp HOM Early adult 0.00

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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

83 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

159 Images

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Eye Morphology

Images Slit Lamp

168 Images

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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

14 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Trim13 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trim13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Cataract 42
Cataract, Developmental cataract OMIM:115900
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Penoscr... OMIM:612965
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr... ORPHA:3453
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract ORPHA:2815
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Ne... OMIM:603552
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogona... OMIM:614837
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Galactosemia Iv
Hepatomegaly, Cataract OMIM:618881
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:617690
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Sp... OMIM:300635
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Sparse lateral eyebrow, Abnormal female external geni... OMIM:277000
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... ORPHA:755
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Morm Syndrome
Micropenis, Cataract ORPHA:75858
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Cryptorchidism ORPHA:250994
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea ORPHA:2528
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Absence of puberta... ORPHA:432
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Delayed ... ORPHA:2410
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cataract, External genital hypoplasia, Cryptorchidism ORPHA:363741
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am... ORPHA:893
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Cryptorchidism, Polycystic ovar... ORPHA:90796
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Bilateral cryptorchidism, Abno... ORPHA:99429
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Nathalie Syndrome
Cataract OMIM:255990
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia ORPHA:280356
Laurence-Moon Syndrome
Cataract, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the ure... ORPHA:2377
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, D... ORPHA:650
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Cryptorchidism OMIM:601794
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Renal... OMIM:194072
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma ORPHA:523
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Decreased testicular size, External genital hypoplasia, Cryptorchid... ORPHA:1867
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Abnormal testis morphology, ... ORPHA:317
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal scrotal rugation, Abnormal male internal genitalia morphology, Abnormal m... ORPHA:2138
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hyp... OMIM:615300
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Cataract OMIM:619420
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,... ORPHA:3085
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... OMIM:278000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal circulating estrog... ORPHA:90797
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Hematuria, Spars... ORPHA:1839
Meckel Syndrome 12
Renal hypoplasia, Vaginal atresia, Antecubital pterygium, Hypoplasia of the uterus, Ureteral hypo... OMIM:616258
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:2772
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Popliteal Pterygium Syndrome
Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid scrotum, Cryptorchidism, Hypopla... OMIM:119500
Glycogen Storage Disease Ixc
Splenomegaly, Bile duct proliferation, Hypertriglyceridemia OMIM:613027
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Temple Syndrome
Decreased testicular size, Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating dehydroepiandrost... OMIM:158330
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Hypoplasia of the uterus OMIM:600705
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Decreased circulating parathyroid hormone level OMIM:146200
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Gl... ORPHA:251274
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism OMIM:614851
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Cataract, Clitoral hypertrophy, Peters anomaly, Ovotestis, Chordee, Sclerocornea, Mi... OMIM:309801
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Cataract OMIM:620425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertrigl... ORPHA:209902
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:66628
Proximal Myotonic Myopathy
Cataract ORPHA:606
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, P... OMIM:137920
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:179494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Micropenis, Sparse hair OMIM:610756
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Premature graying of hair, Decreased response to growth hormone stimulation test, Decre... ORPHA:280679
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... ORPHA:95699
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Microcornea, Sparse pubic hair, Increased circulating gonadotropin level, ... OMIM:110100
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vaginal atresia, H... OMIM:273395
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ly... ORPHA:540
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concen... ORPHA:2238
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... ORPHA:231580
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis OMIM:610125
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Cryptorchidism, Hypertriglyceridemia OMIM:617575
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal OMIM:611812
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Cryptorchidism, Sclerocornea, Iris coloboma, Abnormality of the hypothalam... ORPHA:139471
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon... OMIM:615866
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Nephrocalcinosis, Alopecia... OMIM:240300
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia ORPHA:435651
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia ORPHA:79477
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hypertriglyceridemia OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Splenomegaly, Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Congenital Generalized Lipodystrophy
Polycystic ovaries, Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Splenomegaly, Hypertriglyceridemia ORPHA:2348
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Hypertrichosis, Renal insufficiency, Hypoparathyroidism OMIM:247410
Aniridia 3
Cataract, Aniridia OMIM:617142
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Sparse lateral eyebrow, Bifid scrotum, Supernumerary nipple, Fine hair, Sp... ORPHA:217346
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Warburg Micro Syndrome 2
Cataract, Microcornea, Small scrotum, Cryptorchidism, Low anterior hairline, Hypoplastic labia ma... OMIM:614225
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Sparse pubic hair, Spa... OMIM:618419
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Alport Syndrome 2, Autosomal Recessive
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:609441
Wolfram Syndrome 1
Cataract, Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy, Di... OMIM:222300
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic... OMIM:601186
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98855
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Cataract, Renal insufficiency, Generalized hirsutism, Hypothyroidism, Hypoparathyroi... ORPHA:1563
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Decreased pineal volume, Nephrotic syndrome, Mild p... OMIM:301108
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Scarring alopeci... OMIM:612843
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypercholes... ORPHA:79240
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract, Diabetes mellitus OMIM:601811
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyc... ORPHA:444490
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concentration, Abnormal er... ORPHA:264580
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Lysinuric Protein Intolerance
Hemophagocytosis, Increased circulating ferritin concentration, Decreased HDL cholesterol concent... ORPHA:470
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Cryptorchidism OMIM:300578
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Cowden Syndrome 6
Cataract, Thyroid adenoma, Varicocele, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hyd... OMIM:615109
Cowden Syndrome 5
Cataract, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testi... OMIM:615108
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thrombocytopenia,... ORPHA:31150
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Hypertriglyceridemia OMIM:618183
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Cryptorchidism, Vaginal atresia, Iris coloboma ORPHA:3301
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Proteinuria... OMIM:612469
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia OMIM:613327
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Renal salt wasting, Abnormal circula... ORPHA:90794
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... ORPHA:275761
Peters Plus Syndrome
Iris coloboma, Multicystic kidney dysplasia, Cataract, Microcornea, Peters anomaly, Congenital hy... ORPHA:709
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Abnormal granulocyte morphology, Hypertriglyc... ORPHA:98907
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Hypertriglycer... ORPHA:168569
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Seckel Syndrome 10
Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Elevated circulating fol... OMIM:617253
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Sclerocornea, Hyposp... OMIM:615877
Acquired Generalized Lipodystrophy
Polycystic ovaries, Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, C... OMIM:176270
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia OMIM:610717
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration... ORPHA:77293
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly ORPHA:1414
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Alopecia, Primary adrenal insufficiency, Type II diabetes me... OMIM:269200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia, Anemia OMIM:619418
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglycer... OMIM:151660
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Bifid uterus, Hypospadias OMIM:236680
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Polycystic ovaries, Hypercholesterolemia, Hypertrigly... ORPHA:79259
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hypertriglyceridemia, Hyperuricemia, Multi... OMIM:203800
Immunodeficiency 87 And Autoimmunity
Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decr... OMIM:619573
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, ... OMIM:308940
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypoplasia of penis, Iris co... ORPHA:2250
Peters-Plus Syndrome
Cataract, Renal hypoplasia, Iris coloboma, Peters anomaly, Facial hypertrichosis, Cryptorchidism,... OMIM:261540
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Hypertriglyceridemia ORPHA:536532
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Panc... ORPHA:99889
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Nephrocalcinosis, Congenital hypothy... ORPHA:79500
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Chronic irritative... ORPHA:69085
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Sparse eyebrow, Highly... OMIM:614527
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Pineal cyst, Hypertriglyceridemia ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Scalp-Ear-Nipple Syndrome
Cataract, Type I diabetes mellitus, Duplication of renal pelvis, Breast aplasia, Pyelonephritis, ... ORPHA:2036
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Micropenis, Hy... OMIM:603457
Meckel Syndrome
Cataract, Multicystic kidney dysplasia, Microcornea, Cryptorchidism, Aplasia/Hypoplasia of the ir... ORPHA:564
Glycerol Kinase Deficiency
Hyperglycerolemia, Cryptorchidism, Hypertriglyceridemia OMIM:307030
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Splenomegaly, Biliary hyperplasia, Abnormal circulating fatty-aci... ORPHA:567983
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemi... ORPHA:1830
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Thrombocytopen... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 2
Polycystic ovaries, Elevated hemoglobin A1c, Splenomegaly, Hypertriglyceridemia OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Polycystic ovaries, Splenomegaly, Hypertriglyceridemia OMIM:608594
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Cryptorchidism ORPHA:254346
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bifid scrotum, Horseshoe kidney, Abnormality of the ... ORPHA:322
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Norrie Disease
Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil morphology, Cry... ORPHA:649
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatic fibrosis, Neutropenia OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Cryptorchidism, Hypertriglyceridemia OMIM:264090
Bardet-Biedl Syndrome
Decreased HDL cholesterol concentration, Decreased testicular size, Cryptorchidism, Polycystic ov... ORPHA:110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Hypocalcemia, Hyponatremia, Increased circulating i... ORPHA:544482
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, Ambiguous genitali... OMIM:618280
Atypical Werner Syndrome
Ovarian neoplasm, Abnormal testis morphology, Hypertriglyceridemia ORPHA:79474
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:619879
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Thrombocytopenia-Absent Radius Syndrome
Cataract, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Aplasia of the uterus, Cor... OMIM:274000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hydrocele testis, Hyperlipidemia ORPHA:567546
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Increased circulating prol... ORPHA:3455
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus ORPHA:3320
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hyperlipidemia ORPHA:90153
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concen... ORPHA:565612
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... ORPHA:391487
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Abnormal hair whorl, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Coffin-Siris Syndrome 1
Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Facial hypertrichosis, Dry hair, Hypertricho... OMIM:135900
Glycogen Storage Disease Ic
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Aromatase Deficiency
Enlarged polycystic ovaries, Macroorchidism, postpubertal, Hyperlipidemia, Cryptorchidism ORPHA:91
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus OMIM:614083
Okamoto Syndrome
Facial hypertrichosis, Hypertrichosis, Unilateral renal hypoplasia, Ureteropelvic junction obstru... ORPHA:2729
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cer... OMIM:130050
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Highly arched eyebrow, Ectopia pupillae, Rieger anomaly, Cryptor... OMIM:194190
Neu-Laxova Syndrome 1
Cataract, Pterygium, Cryptorchidism, Absent eyelashes, Bifid uterus OMIM:256520
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Rectovaginal fistula, Bifid scrotum, Renal insuff... OMIM:107480
Fabry Disease
Anemia, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Proteus Syndrome
Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Testicular neoplasm, Macroorchidis... ORPHA:744
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th... OMIM:276820
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Uterine rupture, Cystocele, Abnormal pupil morphology, Cryptorchidism, Ute... ORPHA:286
Pallister-Killian Syndrome
Cataract, Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp ha... OMIM:601803
Alström Syndrome
Testicular fibrosis, Hypoplasia of the Leydig cells, Decreased response to growth hormone stimula... ORPHA:64
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Trim13

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 Trim13.

No publications found that use IMPC mice or data for Trim13.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trim13em1(IMPC)Tcp Exon Deletion Mice
Trim13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trim13tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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