Gene Summary

Name:
meprin 1 alpha
Synonyms:
meprin A alpha-subunit,  Mep1,  Mep-1,  meprin alpha,  Mep-1a

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
decreased fasting circulating glucose level Mep1atm1a(KOMP)Wtsi HOM Early adult 1.70×10-06
increased bone mineral content Mep1atm1a(KOMP)Wtsi HOM Early adult 5.15×10-07
decreased total body fat amount Mep1atm1a(KOMP)Wtsi HOM Early adult 4.27×10-05
abnormal bone structure Mep1atm1a(KOMP)Wtsi HOM Early adult 6.15×10-06

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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.

DSS Histology

Images

7 Images

Legacy Phenotype Associated Images

View all 16 images

Human diseases caused by Mep1a 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 Mep1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... ORPHA:449395
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Nocturia, Urinary urgency, A... ORPHA:37202
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Orchitis, Neoplasm of the rectum, ... ORPHA:556
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Decreased specific pneumococca... OMIM:617006
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Elevated circulating C-reactive protein concentration OMIM:619398
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Decreased circulating antibody level, Feve... OMIM:613101
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Congenital pyloric atresia, Recurrent skin infections, Hematuria, R... ORPHA:79403
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Feeding difficulties in infancy, Reduced natural ki... OMIM:616050
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Proteinuria, Fever, Abdominal pain, R... ORPHA:54057
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Vomiting, Prolinuria, Abdominal pain, Enterocoli... OMIM:260005
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Bronchiectasis,... OMIM:619468
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased c... OMIM:618969
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Elevated circulating creatinine concentration, Gastrointestinal h... ORPHA:85450
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Reduced na... OMIM:619281
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Nausea, E... ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Colitis, Elevated circulating C-reactive protein concentration, Acne, Cystic a... OMIM:604416
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Unilateral renal hypoplasia, Hashimoto thyroiditis... ORPHA:49041
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Fever, Nausea and vom... ORPHA:673
Preeclampsia
Elevated circulating creatinine concentration, Helicobacter pylori infection, Acute kidney injury... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Elevated circulati... ORPHA:91547
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Bacterial Toxic-Shock Syndrome
Nausea, Elevated circulating creatinine concentration, Recurrent urinary tract infections, Hepati... ORPHA:36234
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Helicobacter pylori infection, Cutaneous absces... OMIM:618131
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Colitis, Inflammation of the large intestine, Eczema, Dysphagia,... OMIM:608809
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Abdominal pa... OMIM:614723
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Protracted di... OMIM:209920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Bronchiectasis, Inflammation of the large intestine, Diarrh... OMIM:618108
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Nausea, Hematuria, Gastroesophageal reflux, Abnormal esophagus morp... ORPHA:99921
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Feeding difficulties, Elevated circulating creatinine concentration, Abnormal re... OMIM:616733
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Fever, Abdominal p... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypercholesterolemia, Proteinuria, Abnormal circulating lipid concen... ORPHA:567548
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Fever, Increased c... ORPHA:69126
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Abnormality of the small intestine, Fever, Abdominal pain, Ma... ORPHA:100025
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Pyoderma Gangrenosum
Myositis, Fever, Inflammation of the large intestine, Increased circulating antibody level, Rheum... ORPHA:48104
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Acne, Fever, Inflammation of the large int... ORPHA:324964
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Gastrointestinal hemorr... ORPHA:2137
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Hypertriglyceridemia, Skin rash OMIM:619175
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Anterior uveitis, Recurrent fever, Skin rash OMIM:616744
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Feeding difficulties in infancy, Decreased plasma total carnitine, ... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612926
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Hemolytic-uremic syndrome, Bloody mucoi... ORPHA:810
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Glomerular sclerosis, Elevated circulating creatinine concentrat... OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Arthritis, Renal amyloidosis, Elevated circulating C-reactive protein concentration, Fev... OMIM:120100
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abnormal blood ion concentration, Constipation, Aganglionic megacol... ORPHA:95427
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Uveitis... OMIM:614700
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Fever, Abnormality of the upper urina... ORPHA:617
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Fever, Hypertriglyceridemia, Conjunctivitis, Recurr... OMIM:603552
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerular sclerosis, Elevated circulating creatinine ... ORPHA:93126
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... ORPHA:67
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Fever, Myoglobinuria, Elevated circulating creatine kinase con... OMIM:268200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased plasma carnitine, Exercise-induced myoglobinuria, Elevated cir... OMIM:201475
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
46,Xy Sex Reversal 4
High palate, Recurrent otitis media, Elevated circulating creatinine concentration, Increased blo... OMIM:154230
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Chronic diarrhea, Pancolitis, Abdominal pain, Abnormal intestine morph... OMIM:619079
Focal Myositis
Elevated circulating creatine kinase concentration, Myositis, Fever ORPHA:48918
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Agammaglobulinemia, Interface hepatitis, Intestinal malrotation, C... OMIM:243150
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... ORPHA:439232
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Multiple Myeloma
Increased circulating IgG level, Elevated circulating creatinine concentration, Hypercalcemia, Ac... ORPHA:29073
Mu-Heavy Chain Disease
Increased circulating antibody level, Fever, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Cirrhosis, Familial
Fever, Increased level of L-fucose in urine, Esophageal varix, Abdominal distention, Increased le... OMIM:215600
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Colitis, Bone marrow hypocellularity, Esophageal stenosis OMIM:615190
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Immunodeficiency 69
Fever, Increased circulating ferritin concentration, Diarrhea, Skin rash OMIM:618963
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Chronic diarrhea, Impaired T cell function, Infl... OMIM:614576
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Pancreatitis, Diarrhea, Increased circulating interleukin 6 conce... ORPHA:544482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Hypokalemia, Bloody diarrhea, Hyponatremia, Elevated circulating creatini... ORPHA:90038
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Oliguria, Gastrointestinal dysmotility, Elevat... ORPHA:90051
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Colitis, Chronic diarrhea, Bronchiectasis, Reduced circulating interferon ga... OMIM:301220
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Increased circulating IgM level, Increased inflammato... OMIM:209950
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Interstitial pneumonitis, Decreased circulating IgA level, Ulcer... OMIM:614878
Igg4-Related Aortitis
Increased circulating IgG4 level, Hydronephrosis, Increased inflammatory response, Elevated circu... ORPHA:449400
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatitis, Villous atrophy, Diarrhea OMIM:614602
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Glomerulonephritis, Decreased circulating antib... ORPHA:99867
Reticular Dysgenesis
Decreased circulating antibody level, Fever, Chronic otitis media, Malabsorption, Diarrhea, Skin ... ORPHA:33355
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Hypercalcemia, Acute kidney injury, Elev... ORPHA:284426
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Acute Interstitial Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con... ORPHA:79126
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating ferritin ... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Nephrotic syndrome, Acute pancreatitis, Lymphadenitis, Feve... OMIM:618935
Hemorrhagic Fever-Renal Syndrome
Nausea, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Protei... ORPHA:340
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Fever, Skin rash OMIM:618048
Inflammatory Pseudotumor Of The Liver
Nausea, Increased hepatitis B virus antibody level, Neoplasm of the liver, Fever, Abdominal pain,... ORPHA:90003
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Hepatitis, Villous atrophy, Diarrhea, Sk... OMIM:619381
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Protracted diarrhea, Anorexia, F... ORPHA:169160
Diffuse Alveolar Hemorrhage
Fever, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Abnormal circulating interleukin concentration, Hep... ORPHA:158057
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Scleritis, Renal neutrop... ORPHA:91500
Autosomal Agammaglobulinemia
Sinusitis, High palate, Recurrent skin infections, Agammaglobulinemia, Arthritis, Fever, Bronchie... ORPHA:33110
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Fever, Hyperphosphatemia, Diarrhea, Vomiting OMIM:239350
Marburg Hemorrhagic Fever
Hypokalemia, Nausea, Uveitis, Elevated circulating creatinine concentration, Maculopapular exanth... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Constipation, Hypotriglyceridemia, Feeding difficulties, Urinary inco... OMIM:618885
Cocaine Intoxication
Intestinal perforation, Nausea, Bloody diarrhea, Hematuria, Acute kidney injury, Proteinuria, Col... ORPHA:90068
Malignant Hyperthermia, Susceptibility To, 2
Malignant hyperthermia, Hyperkalemia, Fever, Elevated circulating creatine kinase concentration, ... OMIM:154275
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Malignant Hyperthermia, Susceptibility To, 1
Malignant hyperthermia, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concent... OMIM:145600
Central Diabetes Insipidus
Hyponatremia, Anorexia, Nocturia, Fever, Nausea and vomiting, Diarrhea ORPHA:178029
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Abdominal pain, Enterocolitis, ... ORPHA:2686
Uremic Pruritus
Abnormality of serum cytokine level, Stage 5 chronic kidney disease, Recurrent skin infections, H... ORPHA:94059
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Recurrent aphthous stomatitis, Hepatitis, Premature ova... ORPHA:3261
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Fever, Abdominal pain, Pericarditis, Anter... ORPHA:85414
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Exocrine pancreatic insufficiency, Elevated ci... OMIM:137920
Malignant Hyperthermia, Susceptibility To, 3
Malignant hyperthermia, Hyperkalemia, Fever, Elevated circulating creatine kinase concentration, ... OMIM:154276
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Nausea, Elevated circulati... ORPHA:99829
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Agammaglobulinemia, Arthritis, Hypocalcemia, Chronic diarrhea, Fe... ORPHA:47
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Nausea, Hematuria, ... ORPHA:94088
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Fever, Renal sodium wasting, Vomiting ORPHA:556037
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine ORPHA:46488
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Proteinuria, Pancreatitis, Ulcerative colitis, Stage 5 chronic kidney dis... ORPHA:79259
Boutonneuse Fever
Nausea, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema... ORPHA:83313
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating C-reac... ORPHA:767
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Iga Pemphigus
Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA level, Monocl... ORPHA:555905
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kin... ORPHA:99845
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Fever, Myoglobinuria ORPHA:57
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Pneumonia, Lymphadenitis, Colitis, Chronic diarrhea, Chronic mucocutaneous ca... ORPHA:911
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria, Gast... ORPHA:247691
Meningococcal Meningitis
Infectious encephalitis, Anorexia, Elevated circulating C-reactive protein concentration, Fever, ... ORPHA:33475
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal serum interferon-gamma level, Functional abnormality of the bladder, Esophageal carcinom... ORPHA:391487
Lassa Fever
Oliguria, Menometrorrhagia, Increased circulating IgM level, Fever, Conjunctivitis, Miscarriage, ... ORPHA:99824
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Pneumonia, Increased circulating IgA level, Inflammat... OMIM:600903
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Vomiting, Decreased plasma carnitine, Fever, Hyperuricemia, Increased ... OMIM:246450
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Elevated circulating C-rea... ORPHA:829
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Fever, Oligoarthritis, Furrow... OMIM:614204
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG1 level, Intussuscepti... ORPHA:90363
Pfapa Syndrome
Infectious encephalitis, Nausea and vomiting, Abdominal pain, Malabsorption, Abnormality of tempe... ORPHA:42642
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Dubin-Johnson Syndrome
Abnormal urinary color, Fever, Conjugated hyperbilirubinemia, Abdominal pain, Abnormal gastric mu... ORPHA:234
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Constipatio... ORPHA:223
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypercalcemia, Fever, Hyperactive bowel sounds, Abdominal distention,... ORPHA:35710
Urachal Cyst
Hematuria, Dysuria, Peritonitis, Pyuria, Elevated circulating C-reactive protein concentration, F... ORPHA:488
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Cholangitis, Decreased circul... OMIM:619652
Primary Sclerosing Cholangitis
Abnormal large intestine physiology, Adenocarcinoma of the large intestine, Uveitis, Cholangiocar... ORPHA:171
Tetanus
Elevated urinary epinephrine, Fever, Elevated circulating creatine kinase concentration, Abdomina... ORPHA:3299
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, De... OMIM:615947
Sickle Cell Anemia
Osteomyelitis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Syndromic Diarrhea
Intractable diarrhea, Hepatoblastoma, Bloody diarrhea, Renal hypoplasia, Colitis, Polycystic kidn... ORPHA:84064
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Fever, Abdominal pain, Nausea and vomiting, Diarrhe... ORPHA:99828
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Proteinuria, Inflammatory abnormality of the skin... ORPHA:48435
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Colonic eosinophilia, Membranous nephropathy... OMIM:618999
Ebola Hemorrhagic Fever
Nausea, Acute pancreatitis, Gastrointestinal hemorrhage, Maculopapular exanthema, Fever, Increase... ORPHA:319218
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormality of temperature regulation, Hepatitis, Abnormality of i... ORPHA:848
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Fever, Hypertriglyceridemia OMIM:618398
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Fever, Helicobacter pylori infection, Increased circulating IgM level ORPHA:2688
Solitary Fibrous Tumor/Hemangiopericytoma
Urinary retention, Constipation, Hypophosphatemic rickets, Reduced C-peptide level, Neoplasm of t... ORPHA:2126
Hermansky-Pudlak Syndrome 1
Hematochezia, Colitis, Inflammation of the large intestine, Abdominal pain, Renal insufficiency OMIM:203300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Increased circulating IgM level, Interfa... ORPHA:562639
Autosomal Dominant Centronuclear Myopathy
Malignant hyperthermia, Mildly elevated creatine kinase, Miscarriage, Pyloric stenosis, Urinary i... ORPHA:169189
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Fever, Abdomina... ORPHA:54251
Polyembryoma
Elevated alpha-fetoprotein, Irregular menstruation, Fever, Abdominal pain, Abdominal distention ORPHA:180229
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections,... OMIM:618161
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Bloody diarrhea, Increased circulating IgG level, Pancolitis, Defect... OMIM:618213
Avian Influenza
Pneumonia, Acute kidney injury, Infectious encephalitis, Elevated circulating C-reactive protein ... ORPHA:454836
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Fever OMIM:180300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Fever, Hemoglobinuria, Abdominal pain... OMIM:300908
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:301000
Congenital Enterovirus Infection
Hepatic failure, Infectious encephalitis, Myocarditis, Fever, Hepatitis, Hypoalbuminemia, Hypothe... ORPHA:292
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hyponatremia, Chronic kidney disease, Fever, Acute hepatic fai... ORPHA:1667
Acute Intermittent Porphyria
Ileus, Hyponatremia, Urinary retention, Hepatocellular carcinoma, Dysuria, Constipation, Increase... ORPHA:79276
Microscopic Polyangiitis
Oliguria, Sinusitis, Uveitis, Gastrointestinal hemorrhage, Hematuria, Arthritis, Peritonitis, Inc... ORPHA:727
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Reduced natural kill... OMIM:603553
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Kindler Epidermolysis Bullosa
Recurrent skin infections, Urethral stricture, Colitis, Periodontitis, Neoplasm of the urethra, I... ORPHA:2908
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Uveitis, Abnormality of T cell physiology, Hypercalciuria, An... OMIM:181000
Malignant Hyperthermia Of Anesthesia
Malignant hyperthermia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercis... ORPHA:423
Neuroleptic Malignant Syndrome
Nausea, Hyponatremia, Proteinuria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Urinary incon... ORPHA:94093
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Increased fecal calprotectin level, Elevated circulating C-reactive... OMIM:619573
Wiskott-Aldrich Syndrome
Sinusitis, Hematochezia, Blepharitis, Abnormal platelet function, Arthritis, Chronic diarrhea, Fe... ORPHA:906
Sapho Syndrome
Recurrent skin infections, Acne, Chronic diarrhea, Inflammation of the large intestine, Osteomyel... ORPHA:793
Brucellosis
Nausea, Sacroiliac arthritis, Arteritis, Epididymitis, Abnormality of the gastrointestinal tract,... ORPHA:1304
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Cholangitis, Chronic hepatitis, Colitis, Chronic diarrhea, Fever... ORPHA:3260
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypercalcemia,... OMIM:601678
Cockayne Syndrome Type 1
Uveitis, Proteinuria, Increased blood urea nitrogen, Male hypogonadism, Renal insufficiency, Diar... ORPHA:90321
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Reactive Arthritis
Arthritis, Fever, Inflammation of the large intestine, Recurrent aphthous stomatitis, Osteomyelit... ORPHA:29207
Familial Mediterranean Fever
Erysipelas, Proteinuria, Constipation, Pancreatitis, Diarrhea, Skin rash, Nephrocalcinosis, Osteo... ORPHA:342
Rift Valley Fever
Periodic fever, Increased circulating IgG level, Uveitis, Hematuria, Increased circulating IgM le... ORPHA:319251
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Gastrostomy tube feeding in infancy, Abnormality of temperature regulation, Neurogenic bladder OMIM:619173
Chronic Mucocutaneous Candidiasis
Feeding difficulties in infancy, Hematuria, Cheilitis, Recurrent urinary tract infections, Hepati... ORPHA:1334
Acute Transverse Myelitis
Priapism, Urinary retention, Constipation, Abnormal libido, Paralytic ileus, Fever, Urinary bladd... ORPHA:139417
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Proteinuria, Hydronephrosis, Prostatitis, Otitis media, Pancreatitis... ORPHA:900
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypochloremia,... OMIM:241200
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Proteinuria, Increased blood urea nitrogen, Decreased serum i... ORPHA:447
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Glossitis, Infectious encep... ORPHA:2552
Plague
Bloody diarrhea, Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Vomiting, ... ORPHA:707
Mirizzi Syndrome
Nausea, Anorexia, Fever, Abdominal pain, Abdominal distention, Hyperbilirubinemia, Dark urine, Pa... ORPHA:521219
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Heat intolerance, Renal insufficiency, Hypermagnesemia, X... OMIM:617671
Congenital Factor Xiii Deficiency
Menorrhagia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Dilatation of the renal pelvis, Bronchiectasis, Inflammation of the large i... OMIM:619708
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Dysphagia, Neurogenic bladder ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Dysphagia, Neurogenic bladder ORPHA:276241
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal distention, Abd... ORPHA:309031
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Dysphagia, Neurogenic bladder ORPHA:276244
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Constipation, Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Ulnar-Mammary Syndrome
Ectopic anus, Renal hypoplasia, Hypoplasia of penis, Anal atresia, Pyloric stenosis, Abnormality ... ORPHA:3138
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Increased HDL cholesterol c... ORPHA:70591
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... OMIM:612132
Frontometaphyseal Dysplasia 2
High palate, Feeding difficulties in infancy, Bifid uvula, Gastroesophageal reflux, Pyloric steno... OMIM:617137
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Ectopic kidney, Hyperlipide... ORPHA:99413
Turner Syndrome
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Ectopic kidney, Hyperlipide... ORPHA:881
Mosaic Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Ectopic kidney, Hyperlipide... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Ectopic kidney, Hyperlipide... ORPHA:99226
Leptospirosis
Optic neuritis, Uveitis, Cellular urinary casts, Acute kidney injury, Anorexia, Fever, Abdominal ... ORPHA:509
Mowat-Wilson Syndrome
Recurrent otitis media, Bifid uvula, Chordee, Constipation, Hydronephrosis, Gastrointestinal dysm... ORPHA:2152
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Myositis, Increased circulating IgM level, Increased circulat... ORPHA:79078
Deeah Syndrome
Exocrine pancreatic insufficiency, High palate, Micropenis, Chronic diarrhea, Abnormality of temp... OMIM:619004
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Ma... OMIM:233450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Blepharitis, Uveitis, Hydronephrosis, Scleritis, Abnormality of the kidney, Aganglionic megacolon... ORPHA:2273
Autosomal Recessive Malignant Osteopetrosis
Chronic rhinitis, Hypocalcemia, Hypophosphatemia, Otitis media, Abnormality of temperature regula... ORPHA:667
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Ineffective esophageal peristalsis, Abnormality of t... OMIM:209880

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 Mep1a

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 Mep1a.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mep1atm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mep1atm1a(KOMP)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)