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

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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
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Decreased circulating antibody level, Folliculitis, Fever, Inflammation of ... OMIM:300635
Malakoplakia
Hematuria, Neoplasm of the rectum, Diarrhea, Abdominal pain, Skin rash, Dysuria, Urinary hesitanc... ORPHA:556
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis, Elevated circulating C-reactive protein concentration OMIM:619398
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Decreased circulating antibody level, Abnormal natural killer cell physiolo... OMIM:613101
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Feeding difficu... OMIM:617744
Junctional Epidermolysis Bullosa With Pyloric Atresia
Abdominal distention, Hematuria, Nausea and vomiting, Aplasia of the bladder, Congenital pyloric ... ORPHA:79403
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Episodic vomiting, Skin rash, Fever, Enter... OMIM:616050
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Diarrhea, Abdominal pain, Increased level of L-pyrog... OMIM:260005
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Diarrhea, Abdominal pain, Decreased serum creatinine, Fever, Prot... ORPHA:54057
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Paraproteinemia, N... ORPHA:329918
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Inappropriate absence of fever, Recurrent otitis media, Increased circulating interleukin 6 conce... OMIM:618944
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Achalasia, Furuncle, Recur... OMIM:618969
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Fever, Vomiting, Elevated circulat... OMIM:617872
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Chronic diarrhea, Fever, Decreased circulating IgG le... OMIM:618394
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Colonic eosinoph... OMIM:617638
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro... ORPHA:85450
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent... OMIM:619281
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Acute kidney injury, Increased circulating interleuk... ORPHA:542323
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Abnormal circulating cytokine concentration, Decreased liver function, Incr... ORPHA:540
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, F... ORPHA:673
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Mucoid diarrhea, Decreased circulating IgG leve... OMIM:615767
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Arthritis, Sterile arthritis, Cystic acne,... OMIM:604416
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Impotence, F... ORPHA:49041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Diarrhea, ... ORPHA:91547
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent otitis media, Diarr... OMIM:619802
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abnormal renal collecting system morphology, Abdominal pain, Necrotizing enterocolitis, High pala... OMIM:616809
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Abdominal pain, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatini... OMIM:614723
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Chronic Graft Versus Host Disease
Anorexia, Hematuria, Abnormal esophagus physiology, Gastroesophageal reflux, Diarrhea, Arthritis,... ORPHA:99921
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ... OMIM:614699
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Fever, Elevated circulating creatinine concentration, Myocarditis, Hypocalc... ORPHA:36234
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Elevate... OMIM:301074
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Decreased circulating antibody level, Partial a... OMIM:618108
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Abnormal blood ion concentration, Psoriasiform dermatitis, Depende... ORPHA:37042
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic d... ORPHA:98813
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Gastroparesis, Intestinal pseud... OMIM:619350
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Panhypogammaglobulinemia, Recurrent urinary tract infections, Chron... OMIM:209920
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity, Focal segmental glomerulosclerosis OMIM:620425
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Feeding difficulties, Abnormal re... OMIM:616733
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Increa... ORPHA:2137
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Polycystic kidney dysplasia, Recurren... OMIM:613095
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea OMIM:616868
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Fever, Pustule, Prote... ORPHA:69126
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Fever, Pro... ORPHA:656
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Episodic vomiting, Elevated circulating guanidinoacetic acid concentr... OMIM:612736
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Decreased circulating antibody level, Thyroiditis, Ato... ORPHA:436159
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Gastroesophageal reflux, Diarrhea, Increased blood urea nitrogen, Vomiting,... OMIM:223900
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycysti... OMIM:608836
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Fever, Palmoplantar ... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentra... OMIM:613960
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Thyroiditis, Colitis, Arthritis, Chronic diar... OMIM:614700
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormality of the gastro... ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Retrograde ejaculation, Diarrhea, Elevated urinary dopamine level, Increased blood u... ORPHA:230
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Recurrent fever, Anterior uveitis, Colitis OMIM:616744
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Shigellosis
Fever, Abnormal blood ion concentration, Paralytic ileus, Myocarditis, Acute kidney injury, Anore... ORPHA:810
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Decreased circulating total IgM, Decreased circulating I... OMIM:614878
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Diarrhea, Anuria, Hyperlipidemia, Increased blood... OMIM:235400
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Abdominal pain, Proteinuria, Helicobacter pylori ... ORPHA:275555
Pauci-Immune Glomerulonephritis
Acute kidney injury, Abnormality of the gastrointestinal tract, Pancreatitis, Decreased glomerula... ORPHA:93126
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Fever, Recurrent fever, Conjunctivitis, Increased circulating fe... OMIM:603552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Episodic vomiting, Decreased circulating c... OMIM:201475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Abdominal pain, Vesicoureteral reflux,... ORPHA:617
Secondary Short Bowel Syndrome
Malnutrition, Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestina... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Abdominal pain, Fever, Malabsorption, Abnormal small intestin... ORPHA:100025
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentrat... OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Fever, Gastroin... ORPHA:67
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... OMIM:614376
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Vomiting, H... OMIM:608104
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Rectal atresia, Intestinal atresia, Decreased circulating ... OMIM:243150
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Esophageal stenosis, Decreased circulating antibody level, Colitis OMIM:615190
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
46,Xy Sex Reversal 4
Recurrent otitis media, High palate, Anal atresia, Hypergonadotropic hypogonadism, Increased bloo... OMIM:154230
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Urethral stricture, Bronchiectasis, Reduced circulating in... OMIM:301220
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating C-reactive protein concentration, Malar rash, Elevated circulatin... ORPHA:231111
Focal Myositis
Myositis, Fever, Elevated circulating creatine kinase concentration ORPHA:48918
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Fever, Recurrent fev... OMIM:120100
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Hypothermia, Increased circulating interleukin 6 ... ORPHA:90051
Multiple Myeloma
Acute kidney injury, Increased circulating IgG level, Abnormality of the bladder, Increased circu... ORPHA:29073
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Fever, Abnormal ... OMIM:274150
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Hypotriglyceridemia, Decreased ser... OMIM:618885
Mu-Heavy Chain Disease
Fever, Bence Jones Proteinuria, Increased circulating antibody level, Nephropathy ORPHA:100024
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, A... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Unilateral renal agenesis, Chronic diarrhe... OMIM:614576
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Immunodeficiency 27A
Anorexia, Increased circulating IgG level, Diarrhea, Salmonella osteomyelitis, Fever, Increased c... OMIM:209950
Infection-Related Hemolytic Uremic Syndrome
Fever, Oliguria, Intussusception, Myocarditis, Acute kidney injury, Increased circulating interle... ORPHA:544482
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Decreased circulating total IgA, ... OMIM:619381
Immunodeficiency 40
Chronic oral candidiasis, Intermittent diarrhea, Recurrent otitis media, Rectal fistula, Focal ac... OMIM:616433
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro... ORPHA:449400
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Decreased circul... OMIM:614602
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Recurrent infection of the gastrointestinal... OMIM:301110
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Chronic diarrhea, Abdominal pain, Vesicoureteral reflux, Hypoproteinemia, Elevated circulating cr... OMIM:615895
Diffuse Alveolar Hemorrhage
Fever, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Acute Interstitial Pneumonia
Bronchiectasis, Fever, Elevated circulating creatinine concentration, Elevated circulating C-reac... ORPHA:79126
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Immunodeficiency 69
Fever, Skin rash, Increased circulating ferritin concentration, Diarrhea OMIM:618963
Thymoma
Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Fever, Neoplasm of the gast... ORPHA:99867
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory... ORPHA:284426
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Eosinophilic microabscess formation in the esophag... ORPHA:411696
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Fever, Oliguria, Eleva... ORPHA:340
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... ORPHA:3243
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Increased circulating an... ORPHA:91500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Bone marrow hypocellularit... OMIM:301108
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Central Diabetes Insipidus
Anorexia, Diarrhea, Fever, Hyponatremia, Nocturia, Nausea and vomiting ORPHA:178029
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Chronic oral candidiasis, Increased circulating antibody level, Diarrhea, Erythroderma,... ORPHA:169160
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Neoplasm of the tongue, Bone marrow hypocellularity, Recurr... ORPHA:3261
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Fever, Decreased circulating IgG level, Decrease... OMIM:619924
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration OMIM:620366
Oligomeganephronia
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... ORPHA:178320
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Marburg Hemorrhagic Fever
Increased circulating antibody level, Skin rash, Fever, Hyperammonemia, Pericarditis, Elevated ci... ORPHA:99826
Autosomal Agammaglobulinemia
Chronic otitis media, Diarrhea, Arthritis, Skin rash, High palate, Sinusitis, Fever, Malabsorptio... ORPHA:33110
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Elevated circulating creatine kinase concentration, Fever, Hyperphosphatemia, Malig... OMIM:154275
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Cocaine Intoxication
Acute kidney injury, Gastrointestinal infarctions, Hematuria, Abdominal pain, Colitis, Intestinal... ORPHA:90068
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemi... OMIM:145600
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Periodic fever, Sinusitis, Enterocolitis, Recurr... ORPHA:2686
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Elevated circulating creatine kinase concentration, Fever, Hyperphosphatemia, Malig... OMIM:154276
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... OMIM:266900
Immunodeficiency 32B
Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Fever, Pneumonia, Hypoalbuminemia, Imp... OMIM:226990
Boutonneuse Fever
Increased circulating IgG level, Abdominal pain, Skin rash, Diarrhea, Fever, Nausea, Increased ci... ORPHA:83313
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Neutrophilic i... ORPHA:555905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Hyper... ORPHA:79259
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Abdominal pain, Feve... ORPHA:85414
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Increased circulating interleukin 6 concentration... ORPHA:158061
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Hypospadias, Unilateral... OMIM:137920
Yellow Fever
Hematemesis, Acute kidney injury, Increased circulating interleukin 6 concentration, Diarrhea, Hy... ORPHA:99829
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm ORPHA:46488
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Fever, Hyponatremia, Increased circulating renin level, Vomiting, Renal sodium wasting ORPHA:556037
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Arteritis, Abnormal gastrointestinal vascular morphology,... ORPHA:70475
Lassa Fever
Diarrhea, Nausea and vomiting, Abdominal pain, Fever, Increased circulating IgM level, Dysphagia,... ORPHA:99824
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... ORPHA:911
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, Elevated ci... ORPHA:247691
Urachal Cyst
Hematuria, Elevated circulating C-reactive protein concentration, Pyuria, Abdominal pain, Dysuria... ORPHA:488
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Fever ORPHA:57
Uremic Pruritus
Abnormal circulating cytokine concentration, Hypermagnesemia, Increased blood urea nitrogen, Hype... ORPHA:94059
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Diarrhea, Thyroiditis, Chronic mucocutaneous... ORPHA:391487
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Pancreatitis, Increased circulatin... OMIM:615947
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Fever,... ORPHA:247353
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:620376
Dubin-Johnson Syndrome
Abdominal pain, Fever, Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia, Abnorma... ORPHA:234
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Reduced circulating transferrin concentration, Fever, I... ORPHA:90363
Glucose-Galactose Malabsorption
Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Fever, Hypernatremia, Vomiting, Osmot... ORPHA:35710
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ... OMIM:618213
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hepatocellula... OMIM:232220
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Furrowed tongue, Fever, Geogr... OMIM:614204
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Abnormal large intestine physiology, Thyroiditis, Abdo... ORPHA:171
Nephrogenic Diabetes Insipidus
Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, H... ORPHA:223
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Chronic diarrhea, Partial absence of specific antibody respo... OMIM:619652
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Elevated circulating C-reactive protein co... ORPHA:829
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Hematochezia, Abdominal pain OMIM:191390
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Diarrhea, Abdominal pa... ORPHA:319218
Pfapa Syndrome
Abnormality of temperature regulation, Arthritis, Abdominal pain, Malabsorption, Nausea and vomit... ORPHA:42642
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia, Stomatitis,... OMIM:232240
Syndromic Diarrhea
Intractable diarrhea, Abnormality of iron homeostasis, Gastritis, Villous atrophy, Panhypogammagl... ORPHA:84064
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Fever, Increased circulating ferritin concentration, Panniculitis OMIM:618398
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Skin rash, Bloody diarrhea, Blepharitis, I... OMIM:617718
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Colonic eosinophilia, Mem... OMIM:618999
Wiskott-Aldrich Syndrome
Hematemesis, Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Abnor... OMIM:301000
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Fever, Anorexia... ORPHA:48435
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Gastrointe... OMIM:276700
Beta-Thalassemia
Abnormality of temperature regulation, Abnormality of iron homeostasis, Hepatitis, Hypogonadotrop... ORPHA:848
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Hyperbilirubinemia, Inflammation of the ... ORPHA:562639
Joubert Syndrome 35
Abnormality of temperature regulation, Recurrent urinary tract infections, Renal fibrosis, Hydron... OMIM:618161
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Hematochezia, Renal insufficiency, Colitis OMIM:203300
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Diarrhea, Fever, Decreased cir... OMIM:615758
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularity, Oral leukoplakia, E... OMIM:620133
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Abdominal pain, Unconjugated hyperbilirubinemia, Fever, Hemoglobinuria, Decreased glucose-6-phosp... OMIM:300908
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Villous atrophy, Elevated circulating C-reactive protein concentration, Hyp... OMIM:619573
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Phimosis, Abnormality of the anus, Esophagitis, Inflammation of the lar... ORPHA:2908
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal salivary gland morphology, Increased circulating antibody level, Hypercalciuri... OMIM:181000
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Glomerulopathy, Arthritis, Chronic diarrhea, Abnormal platelet... ORPHA:906
Fumarase Deficiency
Bilateral fetal pyelectasis, Hyperbilirubinemia, Necrotizing enterocolitis, High palate, Elevated... OMIM:606812
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Fever,... ORPHA:423
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hypothermia, Hyperuricemia, Hypocalcemia... ORPHA:94093
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Diarrhea, Increased blood urea nitrogen, Proteinuria, Conj... ORPHA:90321
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormality of temperature regulation, Hematuria, Recurrent urinary tract infections, ... ORPHA:1334
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Recurrent urinary tract infections, Arthritis, Abdominal... ORPHA:29207
Sapho Syndrome
Steatorrhea, Arthritis, Skin rash, Chronic diarrhea, Abdominal pain, Synovitis, Palmoplantar pust... ORPHA:793
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Pancreatitis, Cholangitis, Arthritis, Chronic diarrhea, Abdominal pain, Ecz... ORPHA:3260
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Neurogenic bladder, Abnormality of temperature regulation, Gastrostomy tube feeding in infancy OMIM:619173
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Tafro Syndrome
Fever, Increased circulating interleukin 6 concentration, Renal insufficiency, Elevated circulati... ORPHA:457077
Cirrhosis, Familial
Abdominal distention, Increased level of propylene glycol in blood, Fulminant hepatitis, Esophage... OMIM:215600
Acute Transverse Myelitis
Abnormality of temperature regulation, Urinary incontinence, Decreased circulating copper concent... ORPHA:139417
Sickle Cell Anemia
Elevated circulating creatinine concentration, Priapism, Osteomyelitis, Unconjugated hyperbilirub... ORPHA:232
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:241200
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Hypoplasia of... ORPHA:110
Mirizzi Syndrome
Anorexia, Abdominal distention, Pancreatitis, Hyperbilirubinemia, Abdominal pain, Fever, Vomiting... ORPHA:521219
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Machado-Joseph Disease Type 1
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276241
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Menorrhagia, Hepatic failure ORPHA:331
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Xerostomia, Nephrolithiasis, Renal insuffi... OMIM:617671
Machado-Joseph Disease Type 3
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276244
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... ORPHA:309031
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Elev... ORPHA:70591
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Fever, Constipation, Recurrent pneumonia OMIM:618493
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Hypoplasia of penis, Ectopic anus, Anal atresia, Pyloric s... ORPHA:3138
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Elevated circulating creatinine concentration, Hypercholesterolemia, Gastro... OMIM:619534
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Neurogenic bladder, High palate, Pyloric stenosis, Bifid uvula, Cleft pa... OMIM:617137
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Premature ovarian insufficiency, Recurrent otitis media, Renal hyp... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, Premature ovarian insufficiency, Recurrent otitis media, Renal hyp... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, Premature ovarian insufficiency, Recurrent otitis media, Renal hyp... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Premature ovarian insufficiency, Recurrent otitis media, Renal hyp... ORPHA:99226
Mowat-Wilson Syndrome
Urinary incontinence, Bowel incontinence, Bifid uvula, Dysphagia, Dependency on intravenous nutri... ORPHA:2152
Stuve-Wiedemann Syndrome 1
Abnormality of temperature regulation, Smooth tongue, Fever, Recurrent fever, Dysphagia, Feeding ... OMIM:601559
Deeah Syndrome
Narrow palate, Abnormality of temperature regulation, Chronic diarrhea, High palate, Exocrine pan... OMIM:619004
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Cheilitis, Abnormality of temperature regulation, Hydroureter, Agangli... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Aganglionic megacolon, Ineffective esophageal peristalsis,... OMIM:209880
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Otitis m... ORPHA:667

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)