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Gene: F10 MGI:103107

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Gene Summary

Name:
coagulation factor X
Synonyms:
AI194738,  fX,  Cf10

Order Alleles

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
preweaning lethality, complete penetrance F10tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating creatinine level F10tm1b(EUCOMM)Hmgu HET   Early adult 6.57×10-05
increased kidney weight F10tm1b(EUCOMM)Hmgu HET Early adult 8.44×10-05
increased grip strength F10tm1b(EUCOMM)Hmgu HET   Early adult 4.80×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 586)
aorta 0.17% (1 of 594)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 588)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 590)
cerebellum 0.51% (3 of 594)
cerebral cortex 0.34% (2 of 588)
esophagus 1.69% (7 of 415)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 592)
kidney 4.55% (27 of 593)
large intestine 5.41% (32 of 592)
liver 0.0%
lower urinary tract 0.17% (1 of 586)
lung 0.34% (2 of 581)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 587)
oral epithelium 0.0%
ovary 0.17% (1 of 586)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 566)
peripheral nervous system 0.34% (2 of 587)
peyers patch 0.0%
pituitary gland 0.17% (1 of 589)
prostate gland 2.04% (12 of 588)
skeletal muscle 0.0%
skin 0.17% (1 of 593)
small intestine 5.43% (32 of 589)
spinal cord 0.51% (3 of 587)
spleen 0.51% (3 of 590)
stomach 3.73% (22 of 590)
striatum 0.51% (3 of 583)
testis 0.85% (5 of 591)
thymus 0.17% (1 of 590)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 590)
uterus 0.34% (2 of 590)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by F10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to F10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600

The table below shows human diseases predicted to be associated to F10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... OMIM:155100
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:314050
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... OMIM:139090
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding time ORPHA:238459
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Bruising susceptibility, Prolonged bleeding time OMIM:153640
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy, Prolonged bleeding time ORPHA:638
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Myocardial infarction, Spontaneous, recurrent epistaxis, Pr... ORPHA:182050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level OMIM:300539
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:601399
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... ORPHA:79233
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Epistaxis, Prolo... OMIM:614074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Klippel-Trénaunay Syndrome
Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastrointestinal hemorrhage, Co... ORPHA:90308
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Stuve-Wiedemann Syndrome 2
Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive hea... OMIM:619751
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... OMIM:616733
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Cardiomyopathy, ... OMIM:203300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time ORPHA:3318
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... OMIM:608836
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creati... OMIM:614376
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... ORPHA:906
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death OMIM:245650
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... ORPHA:79230
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Mixed Connective Tissue Disease
Myocarditis, Purpura, Gastrointestinal hemorrhage, Pericarditis, Pulmonary arterial hypertension,... ORPHA:809
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... OMIM:232220
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Neonatal death OMIM:618237
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... OMIM:617303
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... ORPHA:411634
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... OMIM:276700
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death, Death in infancy ORPHA:85212
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce... ORPHA:449395
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Death in infancy OMIM:619334
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Urinary... OMIM:618885
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hepatomegaly, Hypoalbuminemia OMIM:608104
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... OMIM:208540
Wiskott-Aldrich Syndrome, Autosomal Dominant
Gingival bleeding, Large vessel vasculitis, Epistaxis, Small vessel vasculitis, Prolonged bleedin... OMIM:600903
Wiskott-Aldrich Syndrome
Melena, Petechiae, Hematemesis, Gingival bleeding, Purpura, Large vessel vasculitis, Epistaxis, S... OMIM:301000
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:608233
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper... ORPHA:542323
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Death in infancy OMIM:613390
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death OMIM:610498
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy OMIM:616342
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Hype... ORPHA:79259
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia ORPHA:168569
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Multiple Myeloma
Nephrotic syndrome, Splenomegaly, Hyperproteinemia, Nephropathy, Elevated circulating creatinine ... ORPHA:29073
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Intraventricular hemorrhage, Death in adolescence, Neonatal death, Death in i... OMIM:619055
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Kaposiform Lymphangiomatosis
Multiple renal cysts, Hepatosplenomegaly, Splenomegaly, Enlarged kidney ORPHA:464329
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time OMIM:616483
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... OMIM:223900
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Neonatal death, Death in infancy OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:618835
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... OMIM:252500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Neonatal death, Death in infancy OMIM:245400
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Elevated circulating creatinine concentration, Nocturia, Increased blo... ORPHA:230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Boomerang Dysplasia
Neonatal death OMIM:112310
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Recurrent urinary tract infecti... ORPHA:36234
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Hydronephrosis, Ab... ORPHA:79328
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death OMIM:236500
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Hype... ORPHA:340
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Splenomegaly, Congenital megaureter, Elevated alpha-fetoprotein, N... ORPHA:116
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:90038
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... ORPHA:99901
Infantile Liver Failure Syndrome 3
Death in childhood, Prolonged prothrombin time OMIM:618641
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Mitral regurgitation, Neonatal death, Dilated cardiomyopathy, Left ventr... OMIM:619167
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Death in infancy OMIM:617049
Leprechaunism
Hypokalemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Increas... ORPHA:508
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Abcd Syndrome
Neonatal death OMIM:600501
Noonan Syndrome 9
Pulmonic stenosis, Prolonged prothrombin time OMIM:616559
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Enlarged kidney, Renal malrotation ORPHA:500095
Classical Ehlers-Danlos Syndrome
Abnormal heart valve physiology, Bruising susceptibility, Orthostatic hypotension, Mitral regurgi... ORPHA:287
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged prothrombin time, Portal hypertension ORPHA:64743
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Death in infancy OMIM:613070
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Neonatal death, Death in infancy OMIM:265120
Ogden Syndrome
Global glomerulosclerosis, Hyperbilirubinemia, Enlarged kidney, Polycystic kidney dysplasia, Card... OMIM:300855
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy OMIM:300219
Hellp Syndrome
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension ORPHA:244242
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Prolonged prothrombin time, Portal hypertension, Congestive heart failure ORPHA:367
Monosomy 13Q34
Pulmonic stenosis, Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Neonatal death OMIM:618810
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Visceral Steatosis, Congenital
Abnormal bleeding, Neonatal death OMIM:228100
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria... ORPHA:91500
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly OMIM:306955
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Death in childhood, Arrhythmia, Neonatal death, Hypertension, Hypertrophic cardiomyopathy OMIM:614052
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... ORPHA:99829
Shwachman-Diamond Syndrome 2
Death in childhood, Prolonged prothrombin time, Death in infancy OMIM:617941
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Neonatal death, Death in infancy OMIM:609313
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Pulmonary arterial hypertension, Prolo... OMIM:614921
Sialuria
Prolonged prothrombin time ORPHA:3166
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure OMIM:616271
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Cardiomyopathy, Death in infancy, Pericarditis, Prolonged prothrombin time OMIM:212065
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Hypertrophic cardiomyo... ORPHA:71212
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... OMIM:312870
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time ORPHA:88618
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death OMIM:619859
Cardiac-Urogenital Syndrome
Tachycardia, Prolonged bleeding time OMIM:618280
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Increased circulating ferritin concentration, Hepatomegaly, Hyperbilirubinemia, Splen... OMIM:619534
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage ORPHA:247245
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Prolonged prothrombin time, Hypotension ORPHA:20
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time OMIM:267700
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time OMIM:212750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time OMIM:603553
Acute Liver Failure
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Shock, Gastroin... ORPHA:90062
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal death, Death in infancy OMIM:610921
Alg12-Cdg
Prolonged prothrombin time ORPHA:79324
Hepatocellular Carcinoma
Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension ORPHA:88673
Kasabach-Merritt Syndrome
Purpura, Prolonged prothrombin time, Petechiae ORPHA:2330
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Portal hypertension ORPHA:309854
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure ORPHA:14
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Primary Sclerosing Cholangitis
Palmar telangiectasia, Spider hemangioma, Portal hypertension, Prolonged prothrombin time, Conges... ORPHA:171
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged prothrombin time ORPHA:247598
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Prolonged prothrombin time ORPHA:404454
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma OMIM:619525
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Bruising susceptibility, Abnormal bleeding, Renovascular hypertension... ORPHA:286

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 F10

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 F10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ring finger protein 10 is a novel synaptonuclear messenger encoding activation of NMDA receptors in hippocampus. eLife (March 2016) RNF10tm1a(KOMP)Wtsi PMC4805553

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MGI Allele Allele Type Produced
F10tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
F10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
F10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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