Gene Summary

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

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 mammary gland morphology Trim13em1(IMPC)Tcp HOM Late adult 0.00
cataract Trim13em1(IMPC)Tcp HOM Late adult 9.50×10-07
enlarged urinary bladder Trim13em1(IMPC)Tcp HOM Late adult 0.00
increased circulating triglyceride level Trim13em1(IMPC)Tcp HOM Early adult 2.44×10-07
enlarged thymus Trim13em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Trim13em1(IMPC)Tcp HOM Late adult 0.00
small uterus Trim13em1(IMPC)Tcp HOM Late adult 0.00
abnormal lens morphology Trim13em1(IMPC)Tcp HOM Late adult 3.70×10-07
small adrenal glands Trim13em1(IMPC)Tcp HOM Late adult 0.00

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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

159 Images

Eye Morphology

Images Ophthalmoscopy

83 Images

Eye Morphology

Images Slit Lamp

168 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Histopathology

Images

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
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
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia 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
Cataract, Hypogonadism OMIM:312910
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Uncombable Hair Syndrome 2
Juvenile cataract, Uncombable hair, Pili canaliculi 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, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Cataract 42
Cataract, Developmental cataract OMIM:115900
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... 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, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Incr... ORPHA:3453
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, ... OMIM:603552
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
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
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Absent pubic hair, Elevated circulating follicle stimul... OMIM:612964
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Galactosemia Iv
Cataract, Hepatomegaly OMIM:618881
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia OMIM:306000
Ovarian Dysgenesis 2
Delayed puberty, Hirsutism, Hypergonadotropic hypogonadism, Streak ovary, Hypoplasia of the uterus OMIM:300510
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... 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
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Ovarian Dysgenesis 5
Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating luteinizing hormone lev... OMIM:617690
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased ci... OMIM:300635
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Hypospadias, Abnormal vas de... ORPHA:755
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Morm Syndrome
Cataract, Micropenis ORPHA:75858
1Q21.1 Microduplication Syndrome
Cataract, Cryptorchidism, Hypospadias ORPHA:250994
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level 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
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism ORPHA:2528
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, Decreased serum testosterone con... OMIM:278850
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Lymphadenopathy, Hemophago... OMIM:267700
Nathalie Syndrome
Cataract OMIM:255990
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Cataract, Cr... ORPHA:2377
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Microcytic anemia OMIM:619013
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism OMIM:601794
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of th... OMIM:194072
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, External genital hypoplasia, Corneal opacity, Atrichia, Decreased testicular size... ORPHA:1867
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... OMIM:205400
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Erythrokeratodermia Variabilis
Abnormal hair morphology, Corneal opacity, Abnormal testis morphology, Generalized hirsutism, Cat... ORPHA:317
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Decreased serum estradiol, Increased circulating gona... OMIM:615300
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopat... ORPHA:158061
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... ORPHA:3085
Martsolf Syndrome 2
Cataract, Developmental cataract, Hypogonadotropic hypogonadism OMIM:619420
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Iris coloboma OMIM:120433
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Bone-marrow f... OMIM:278000
Partial Androgen Insensitivity Syndrome
Blind vagina, Abnormality of secondary sexual hair, Clitoral hypertrophy, Increased circulating a... ORPHA:90797
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased ... OMIM:615830
Hereditary Mucoepithelial Dysplasia
Hematuria, Corneal dystrophy, Sparse hair, Cataract, Fine hair, Abnormal morphology of female int... ORPHA:1839
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Antecubital pterygium, Vaginal atresia, Hypoplasia of the ... OMIM:616258
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Abnormal circulating testosterone concentration, Hirsutism, Oligozoospermia, Inc... ORPHA:786
Popliteal Pterygium Syndrome
Popliteal pterygium, Bifid scrotum, Intercrural pterygium, Hypoplasia of the vagina, Small scrotu... OMIM:119500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypoproteinemia, I... OMIM:603553
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly, Bile duct proliferation OMIM:613027
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Temple Syndrome
Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Satoyoshi Syndrome
Alopecia universalis, Hypoplasia of the uterus, Alopecia OMIM:600705
Monilethrix
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Patchy alopecia, Abnormal eyebrow m... ORPHA:573
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Hypoparathyroidism, Familial Isolated, 1
Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hypoparathyroidism OMIM:146200
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:251274
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus OMIM:614851
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca... OMIM:309801
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:620425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ... ORPHA:209902
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... ORPHA:66628
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum insulin-like grow... OMIM:241080
Proximal Myotonic Myopathy
Cataract ORPHA:606
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Unilateral renal agenesis, Pancreatic hypoplas... OMIM:137920
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz... ORPHA:179494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Developmental cataract, Sparse hair, Cataract, Micropenis OMIM:610756
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Delayed puberty, Decreased response to growth hormone stimulation test... ORPHA:280679
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Microcornea, Sparse pubic hair, Increased circulating gonadotropin level, ... OMIM:110100
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Urethral atresia, C... OMIM:273395
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, ... ORPHA:540
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Familial Isolated Hypoparathyroidism
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroi... ORPHA:2238
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Microphthalmia, Syndromic 5
Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism, Lymphopenia OMIM:617575
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Sp... OMIM:615866
Microphthalmia With Brain And Digit Anomalies
Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cataract, Cryptorchidi... ORPHA:139471
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Keratoconjunctivitis, Female hypogonadism, Hy... OMIM:240300
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism ORPHA:369929
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Cryptorchidism OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Splenomegaly, Hyperuricemia ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Increased C-peptide level ORPHA:528
Griscelli Syndrome Type 2
Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Elevated circulating creatine kinase concentration ORPHA:435660
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Polycystic ovaries, Splenomegaly ORPHA:2348
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Nephropathy, Cataract, Renal insufficiency, Hypertrichosis OMIM:247410
Aniridia 3
Cataract, Aniridia OMIM:617142
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hirsutism, Nephrolith... ORPHA:189427
19Q13.11 Microdeletion Syndrome
Hypospadias, Sparse or absent eyelashes, Microcornea, Bifid scrotum, Sparse lateral eyebrow, Spar... ORPHA:217346
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Warburg Micro Syndrome 2
Small scrotum, Microcornea, Developmental cataract, Low anterior hairline, Cataract, Cryptorchidi... OMIM:614225
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Highly arched eyebrow, Clitoral hypoplasia, Sparse... OMIM:618419
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Cataract, Di... OMIM:222300
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Hypoplasia of... OMIM:601186
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Nephropathy, Hypothyroidism, Generalized hirsutism, Cataract, Renal insuffici... ORPHA:1563
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cataract, Mild p... OMIM:301108
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Keratitis, Conjunct... OMIM:612843
Proteus-Like Syndrome
Thymus hyperplasia, Heterochromia iridis, Splenomegaly, Cataract, Limbal dermoid, Polycystic ovar... ORPHA:2969
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Hematuria, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Ne... OMIM:146255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, P... ORPHA:79240
Premature Aging Syndrome, Okamoto Type
Cataract, Diabetes mellitus, Abnormal hair morphology OMIM:601811
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Hepatosplenomegaly, Increased circulating chylomicron conce... ORPHA:444490
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Abnormal erythrocyte enzyme concentration or activity, Elevated cir... ORPHA:264580
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased response to growth hormone stimulation test, Ste... ORPHA:470
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Cryptorchidism OMIM:300578
Ifap Syndrome 2
Nail dystrophy, Atrichia, Keratitis, Sparse hair, Cataract, Keratoconjunctivitis sicca OMIM:619016
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Cataract... OMIM:615109
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Cataract, Goiter, Hy... OMIM:615108
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosple... ORPHA:31150
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism OMIM:618183
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Vaginal atresia, Cataract, Cryptorchidism, Multicystic kidney dysplasia, Iris coloboma ORPHA:3301
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Wagro Syndrome
Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Prot... OMIM:612469
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration OMIM:613327
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... ORPHA:90794
Peters Plus Syndrome
Ureteral duplication, Hypospadias, Anterior hypopituitarism, Multicystic kidney dysplasia, Microc... ORPHA:709
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase conce... ORPHA:98907
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
H Syndrome
Hypertriglyceridemia, Lymphadenopathy, Decreased testicular size, Hepatosplenomegaly, Histiocytos... ORPHA:168569
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Abnormal circulating interferon-gamma concentration, Recurrent respi... ORPHA:79124
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating follicle stimulating hormone ... OMIM:617253
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Abnormal circulating lipid concentration ORPHA:79086
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microcornea, Long eyelashes, Precocious puberty, Sclerocornea, Ectopia pupillae, Cat... OMIM:615877
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Polycystic ovaries, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:280365
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Decreased circulating progesterone, Highly arched eyebrow, Lacrimal gland... ORPHA:572333
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... ORPHA:3109
Amyloidosis, Finnish Type
Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 chronic kidney dis... OMIM:105120
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration OMIM:610717
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Decreased HDL choles... OMIM:176270
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Keratoconjunctivitis, Hypothyroidism, Primary adrenal insufficiency, Hyperthyro... OMIM:269200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia OMIM:619418
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis OMIM:236680
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Decreased HDL cholesterol concent... OMIM:151660
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Po... ORPHA:79259
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly ORPHA:1414
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Decreased HDL choles... OMIM:203800
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Abnormal renal ph... OMIM:308940
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypoparathyroidism ORPHA:369837
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Hypoplasia of penis, Hypogonadism, Cataract, Cryptorchidism, Iris co... ORPHA:2250
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Hypoplastic labia majora, Clitoral hypop... OMIM:261540
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Cryptorchidism ORPHA:536532
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Low anterior hairline, Nephrocalc... ORPHA:79500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Aplasia of the ovary, Breast aplasia, Aplasia of the uterus, H... ORPHA:69085
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Cushing Disease
Hirsutism, Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increase... ORPHA:96253
Chromosome 17Q12 Deletion Syndrome
Nail dystrophy, Unilateral renal agenesis, Aplasia of the vagina, Highly arched eyebrow, Aplasia ... OMIM:614527
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Pineal cyst ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Breast aplasia, Sparse hair, Cataract, Duplication of renal pelvis, Type I ... ORPHA:2036
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Synophrys, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypo... OMIM:603457
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Microcornea, Pancreatic fibrosis, Male pseudo... ORPHA:564
Glycerol Kinase Deficiency
Hypertriglyceridemia, Cryptorchidism, Hyperglycerolemia OMIM:307030
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Biliary hyperplasia, Splenomegaly, Abnormal circulating fatty-aci... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulat... OMIM:256040
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Polycystic ovaries OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polycystic ovaries, Splenomegaly OMIM:608594
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hyperlipidemia ORPHA:254346
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Low posterior hairline, Sparse eyebrow, Bifid uterus, Abnormal reproductive... ORPHA:1521
Norrie Disease
Delayed puberty, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Cryptor... ORPHA:649
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Glycogen Storage Disease Ib
Xanthelasma, Hyperuricemia, Hyperlipidemia, Splenomegaly, Pancreatic fibrosis, Neutropenia OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypoplasia of the thymus OMIM:264090
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of the ovary, Decreased... ORPHA:110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Increased circulating interleukin 6 concentration, Hypocalcemia, Hyponatremia, Abno... ORPHA:544482
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Atypical Werner Syndrome
Hypertriglyceridemia, Ovarian neoplasm, Abnormal testis morphology ORPHA:79474
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Aplasia of the uterus, Corneal opacity, Vesicoureteral reflux, Hepatospleno... OMIM:274000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Increased circulating prolactin concentration, Cryptorchidism, Decreased re... ORPHA:3455
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Breast aplasia ORPHA:90153
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent Aspergillus infections, Recurrent ... ORPHA:391487
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Hyperlipidemia, Splen... ORPHA:565612
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Abnormal hair whorl, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Coffin-Siris Syndrome 1
Lumbosacral hirsutism, Clitoral hypertrophy, Astigmatism, Hydroureter, Hypospadias, Ectopic kidne... OMIM:135900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis OMIM:614083
Glycogen Storage Disease Ic
Xanthelasma, Cyclic neutropenia, Hyperlipidemia, Hyperuricemia OMIM:232240
Okamoto Syndrome
Astigmatism, Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Bifid ... ORPHA:2729
Aromatase Deficiency
Macroorchidism, postpubertal, Cryptorchidism, Hyperlipidemia, Enlarged polycystic ovaries ORPHA:91
Ehlers-Danlos Syndrome, Vascular Type
Alopecia of scalp, Keratoconus, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystoce... OMIM:130050
Wolf-Hirschhorn Syndrome
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Low posterior hairline, Precocious pub... OMIM:194190
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Neu-Laxova Syndrome 1
Pterygium, Absent eyelashes, Bifid uterus, Cataract, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Proteus Syndrome
Ovarian neoplasm, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Thymus hyperpla... ORPHA:744
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Anemia ORPHA:324
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Hyperlipidemia, Adrenocorticotropic hormon... ORPHA:293987
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Keratoconus, Abnormal eyelash morphology, Abnormality of hair textu... ORPHA:286
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Alopecia, Sparse ante... OMIM:601803
Alström Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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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