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Gene: Phrf1 MGI:2141847

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Gene Summary

Name:
PHD and ring finger domains 1
Synonyms:
N/A

Order Alleles

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
abnormal skin morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal heart morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal uterus morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
abnormal bone structure Phrf1em1(IMPC)Tcp HOM Late adult 2.11×10-05
abnormal salivary gland morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Phrf1em1(IMPC)Tcp HOM Late adult 0.00
decreased body length Phrf1em1(IMPC)Tcp HOM Early adult 1.25×10-05
small spleen Phrf1em1(IMPC)Tcp HOM Late adult 0.00
enlarged salivary gland Phrf1em1(IMPC)Tcp HOM Late adult 0.00
increased circulating triglyceride level Phrf1em1(IMPC)Tcp HOM Early adult 5.97×10-05
abnormal kidney morphology Phrf1em1(IMPC)Tcp HOM Late adult 0.00
small uterus Phrf1em1(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 Slit Lamp

138 Images

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Eye Morphology

Images Ophthalmoscopy

144 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

91 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral 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

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Histopathology

Images

1 Images

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Human diseases caused by Phrf1 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 Phrf1 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
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Cardiac amyloidosis, Multiple bony cystic lesions, Intestinal... ORPHA:314652
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... ORPHA:449432
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Al Amyloidosis
Hepatomegaly, Anemia, Abnormal salivary gland morphology, Howell-Jolly bodies, Abnormal cardiac v... ORPHA:85443
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Melioidosis
Liver abscess, Prostatitis, Splenic abscess, Parotitis, Abnormality of the spleen, Abnormal parot... ORPHA:31202
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Male hypogonadism, Hypospadias, Abnormal vas deferens morphology, Brea... ORPHA:755
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Eosinophilia,... OMIM:602450
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ... OMIM:610644
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin... OMIM:273250
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Xerostomia, Abnorm... ORPHA:79078
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ... OMIM:202010
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Gracile Bone Dysplasia
Decreased skull ossification, Ankyloglossia, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Temple Syndrome
Hypertriglyceridemia, Decreased testicular size, Precocious puberty, Cryptorchidism, Hypercholest... OMIM:616222
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute... OMIM:601186
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, N... ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Benign Schwannoma
Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph... ORPHA:252164
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Microdontia, Ureterocele, Urethral stenosis, Transverse vaginal septum, Decreased response to gro... OMIM:604292
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, In... OMIM:618280
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Precocious puberty in females, Increased C-peptide le... ORPHA:528
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Abnormal heart morphology, Wide mouth, Cleft palate, Abnormal pa... OMIM:154500
Satoyoshi Syndrome
Mildly elevated creatine kinase, Hypoplasia of the uterus OMIM:600705
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Ureterocele, Transverse vaginal septum, Decreased response to growth hormone stimula... OMIM:129900
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Polycystic ovaries, Elevated circulating ... ORPHA:435660
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypertriglyceridemia, Decreased testicular size, Hypergonadotropic hypog... ORPHA:66628
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Mirage Syndrome
Anemia, Hypospadias, Radial club hand, Microphallus, Decreased testicular size, Hypergonadotropic... OMIM:617053
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enam... ORPHA:2363
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypertriglyceridemia, Decreased testicular size, Hypergonadotropic hypog... ORPHA:179494
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of... ORPHA:449563
Reni Syndrome
Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Cryptorchidism, Micropenis OMIM:617575
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal... ORPHA:90340
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Cryptorchidism, Male hypogonadism OMIM:615381
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplas... ORPHA:432
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Stormorken Syndrome
Hematuria, Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocyto... OMIM:185070
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia ORPHA:79083
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Lumbar Syndrome
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Bifid uterus, Blad... ORPHA:83628
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Polycystic ovaries ORPHA:2348
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter... ORPHA:168558
Smith-Magenis Syndrome
Precocious puberty, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter... ORPHA:289548
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ... OMIM:146255
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate, Bifid uterus ORPHA:2736
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testi... OMIM:241080
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Estrogen Resistance Syndrome
Osteopenia, Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Oste... ORPHA:785
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, External genital hypoplasia, Hyper... OMIM:176270
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:79240
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Cleft palate, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abn... ORPHA:3320
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t... ORPHA:3464
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En... ORPHA:797
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism OMIM:618183
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Lynch Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria... ORPHA:144
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Abnormal circulating lipid concentration ORPHA:79086
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Hypercho... OMIM:151660
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:264580
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus... OMIM:617466
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Okamoto Syndrome
Urinary incontinence, Anal stenosis, Abnormal left ventricle morphology, Primum atrial septal def... ORPHA:2729
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro... OMIM:149730
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Myoectodermal Gonadal Dysgenesis Syndrome
Thin vermilion border, Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Hypodonti... OMIM:618419
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, High palate, Renal cyst,... OMIM:614527
H Syndrome
Hypertriglyceridemia, Azoospermia, Decreased testicular size, Hypogonadism, Micropenis ORPHA:168569
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Polycystic ovaries, Decreased HDL cholesterol concentration ORPHA:280365
Renal Cysts And Diabetes Syndrome
Hypospadias, Hyperuricemia, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Elevated ci... OMIM:137920
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Pagod Syndrome
Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of ... ORPHA:991
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Short lingual frenulum, High palate, Bifid uterus, Wide mouth, Craniosynost... ORPHA:1521
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Esophageal atresia, Aplasia of the uterus, Tracheoesophageal f... OMIM:614083
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Decreased calvarial ossification, Ambiguous g... OMIM:619879
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Anal stenosis, Vesicour... ORPHA:322
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Neurofibroma
Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology, Intestinal bleeding, En... ORPHA:252183
Limb-Mammary Syndrome
Cleft hard palate, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bil... ORPHA:69085
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Elevated serum 11-deox... OMIM:201750
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Te... ORPHA:51636
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Polycystic ovaries, Hypercholes... ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ... ORPHA:284339
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Anemia, Atrioventricular canal defect, Meckel diverticulum, Vesicoureteral ... OMIM:274000
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Hypergonadotropic h... OMIM:203800
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Cryptorchidism ORPHA:536532
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Labial hypertrophy, Polycystic ovaries OMIM:608594
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Hydronephros... OMIM:236680
Phocomelia, Schinzel Type
High, narrow palate, Hypoplasia of penis, Aplasia of the uterus, Anal atresia, Tracheoesophageal ... ORPHA:2879
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Clitoral hypertrophy, Elevated hemoglobin A1c, Polycystic ovaries, Labial h... OMIM:269700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Anal atresia, Hydronephrosis, Urethral atresia, Abs... OMIM:271520
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Wolf-Hirschhorn Syndrome
Orofacial cleft, Hypospadias, Short philtrum, Accessory spleen, Hypodontia, Abnormal sternal ossi... OMIM:194190
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Oral ulcer, Parotitis, Increased B cell cou... OMIM:620376
Coffin-Siris Syndrome 1
Duodenal ulcer, Clitoral hypertrophy, Ectopic kidney, Aplasia of the uterus, Microdontia, Intesti... OMIM:135900
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Glycerol Kinase Deficiency
Hypertriglyceridemia, Cryptorchidism, Hyperglycerolemia OMIM:307030
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Bardet-Biedl Syndrome
Hydrometrocolpos, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Aplasia/Hypoplas... ORPHA:110
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Rat-Bite Fever
Myocarditis, Pancreatitis, Anemia, Parotitis, Lymphadenitis, Pericarditis, Endocarditis ORPHA:31205
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypospadias ORPHA:254346
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Ehlers-Danlos Syndrome, Vascular Type
Thin vermilion border, Anemia, Osteolytic defects of the phalanges of the hand, Uterine rupture, ... OMIM:130050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Open mouth, Aplasia of the vagina ORPHA:457284
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Townes-Brocks Syndrome 1
Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bif... OMIM:107480
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Pulmonic stenosis, Biliary tract abnormality, Long ph... OMIM:261540
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Epididymitis, Elevated circulating... OMIM:256040
Vascular Ehlers-Danlos Syndrome
Abnormal intestine morphology, Microdontia, Abnormal oral frenulum morphology, Mitral valve prola... ORPHA:286
Peters Plus Syndrome
Ureteral duplication, Pulmonic stenosis, Wide mouth, Long philtrum, Abnormal cardiac septum morph... ORPHA:709
Atypical Werner Syndrome
Hypertriglyceridemia, Ovarian neoplasm, Abnormal testis morphology, Hypogonadism ORPHA:79474
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Neu-Laxova Syndrome 1
Transposition of the great arteries, Swollen lip, Thick lower lip vermilion, Patent foramen ovale... OMIM:256520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Loeys-Dietz Syndrome
Orofacial cleft, High palate, Bifid uvula, Craniosynostosis, Uterine rupture ORPHA:60030
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypospadias, Long penis OMIM:264090
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Narrow palate, Hypospadias, Anteriorly displaced genitalia, Hypoplastic nipples, High palate, Apl... OMIM:276820
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... ORPHA:189427
Pallister-Killian Syndrome
Aplasia of the uterus, Everted lower lip vermilion, Aortic valve stenosis, Intestinal malrotation... OMIM:601803
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Wide penis, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3455
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Norrie Disease
Thin vermilion border, Cryptorchidism, Uterine rupture ORPHA:649
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Hypoplasia of the Leydig cells, Oligozoosper... ORPHA:64
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia ORPHA:324
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
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 Phrf1

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 Phrf1.

No publications found that use IMPC mice or data for Phrf1.

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MGI Allele Allele Type Produced
Phrf1em1(IMPC)Tcp Exon Deletion Mice, Tissue

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