Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
RNA binding motif protein 7
Synonyms:
1500011D06Rik,  1200007M24Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rbm7 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 Rbm7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia, Pulmonary fibrosis OMIM:620400
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Interstitial Lung Disease 2
Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumo... OMIM:178500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent lower respiratory tract infections, Recurrent respiratory infections, Pancytopenia, B l... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Pulmonary fibrosis, Leukemia, Myeloid leukemia OMIM:614743
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu... OMIM:619902
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c... OMIM:615206
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Iron deficiency anemia, Pulmonary fibrosis OMIM:178550
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Thrombocytopenia, Splenomegaly... OMIM:226990
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Autosomal Recessive Spastic Paraplegia Type 70
Nephrotic syndrome, Abnormal pulmonary interstitial morphology ORPHA:401835
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Reticular pattern on pulmonary HRCT, Pancytopenia, Usual inte... OMIM:614742
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Bron... OMIM:619802
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ... OMIM:613759
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Abnormal proportion of CD4-positive T cells, Pulmonary fibrosis, Ly... ORPHA:133
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... OMIM:618913
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis OMIM:176090
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis ORPHA:60026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int... OMIM:620367
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Granuloma, Hepatosplenomegaly, Protein... OMIM:619858
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Periportal fibrosis OMIM:213010
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis OMIM:271500
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper... OMIM:615518
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... OMIM:616278
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic... ORPHA:369
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Abnormal localization of kidney ORPHA:446
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom... OMIM:613313
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Anemia, Hepatomegaly, Intraalveolar phosph... OMIM:615486
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, Pu... ORPHA:99931
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly... OMIM:614470
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:616629
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Hemosiderin-laden macr... OMIM:616414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,... ORPHA:84081
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Recurrent sinusitis, Thromb... OMIM:613101
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Pulmonary hypoplasi... OMIM:615415
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Coach Syndrome 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogenic kidneys,... OMIM:619111
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona... OMIM:618394
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Pleural effusion, Acute pancreatitis, Granuloma, Nephrotic syndrome, Recurrent ... OMIM:618935
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis OMIM:620365
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille... ORPHA:79124
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepatic fibrosis, H... OMIM:231100
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening... ORPHA:79126
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney dis... ORPHA:3156
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Aspergillosis
Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiecta... ORPHA:1163
Felty Syndrome
Hepatomegaly, Anemia, Recurrent pharyngitis, Pleuritis, Recurrent urinary tract infections, Abnor... ORPHA:47612
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal tubular atrop... OMIM:613550
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Desquamative interstitial pneumonitis, Recurrent upper respiratory t... OMIM:263000
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Pulmonary fibrosis, Urethral strictu... OMIM:613989
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Argininosuccinic aciduria, Portal inflammation, Hepatocellular carcinoma, Elevated ... OMIM:603471
Diffuse Alveolar Hemorrhage
Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Pulmonary fibrosis, Irregular sep... ORPHA:90060
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pulmonary fibrosis, Lymphopenia, Pancytopenia OMIM:619767
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver d... OMIM:612284
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Hereditary Mucoepithelial Dysplasia
Abnormality of the bladder, Recurrent respiratory infections, Hematuria, Pulmonary fibrosis ORPHA:1839
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi... OMIM:216360
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:232400
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, ... OMIM:127550
Scedosporiosis
Pleuritis, Bronchitis, Abnormal renal morphology, Pleural empyema, Pulmonary fibrosis, Pneumonia ORPHA:449280
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Portal hypertension, Panc... OMIM:617341
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated... OMIM:620454
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Bronchiectasis, Respiratory tract infection, Pulmonary fibrosis, M... ORPHA:79128
Mixed Connective Tissue Disease
Abnormal pulmonary interstitial morphology, Hepatomegaly, Pleuritis, Leukopenia, Splenomegaly, Pu... ORPHA:809
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent pneumonia, Recurrent sinusi... OMIM:619281
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemia, Pancytope... OMIM:613990
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Laurence-Moon Syndrome
Displacement of the urethral meatus, Renal insufficiency, Congenital hepatic fibrosis, Hypoplasia... ORPHA:2377
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis, Hepatic failure OMIM:602579
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intrahepatic ... ORPHA:731
Braddock Syndrome
Unilateral renal agenesis, Pulmonary fibrosis ORPHA:52047
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Thrombocytopenia, Pulmonary fibrosis, Hepatic fibrosis OMIM:224230
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... OMIM:606966
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepato... OMIM:606003
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ... OMIM:256100
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Liver abscess, Elevated circulating hepatic transaminase co... ORPHA:480520
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Anemia, Erythroid hypoplasia, Pulmonary fibrosis OMIM:618165
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Pulmonary fibrosis ORPHA:457240
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abscess OMIM:612852
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra... ORPHA:470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Polymyositis
Abnormal renal tubule morphology, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pulmo... ORPHA:732
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... OMIM:619013
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Pulmonary fibrosis OMIM:614073
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Recurrent pneumonia, Hepatosplenomegaly, Splenomega... OMIM:608233
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Extrapulmonary lobar sequestration, Pulmon... OMIM:200995
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Glomerular scleros... OMIM:619487
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Atelectasis, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytos... OMIM:618278
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Lymphopenia, Leukopenia, Pulmonary fibrosis, Recurrent respiratory infections, Thrombocyt... OMIM:615934
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Duplicated collecting system, Cholestasi... ORPHA:541423
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Mpi-Cdg
Decreased liver function, Hepatic fibrosis, Hepatomegaly, Portal hypertension ORPHA:79319
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hepatomegaly, Hematuria, Bronchitis, Calcium nephrolithiasis, I... ORPHA:60025
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega... OMIM:300972
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Arima Syndrome
Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros... OMIM:243910
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation OMIM:610688
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:264580
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis OMIM:601539
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Renal insufficiency, P... ORPHA:330001
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Cirrhosis, Anemia, Hepatomegaly, Cholelithiasis, Panc... ORPHA:77259
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, Hepatocellular carcinoma, Pulmonary fi... ORPHA:3261
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Renal insufficiency, Hepatic fibrosis, Renal cyst, Polycystic liver disease, Bile duct ... OMIM:208500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva... OMIM:617093
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Anemia, Renal insufficiency, Dysuria, Pleural effusio... ORPHA:35687
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Osteootohepatoenteric Syndrome
Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundi... OMIM:619377
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia, Hep... OMIM:614091
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Polycystic kidney dysplasia, Pulmonary hypoplasia, Periportal fibrosis OMIM:263210
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Antisynthetase Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:81
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi... OMIM:266900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemi... ORPHA:79240
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopulmonary in... ORPHA:486
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Pulmonary fibrosis ORPHA:220393
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia,... OMIM:230800
Typhoid
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly ORPHA:99745
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Nephrolithiasis, ... ORPHA:797
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hepati... ORPHA:79322
Al Amyloidosis
Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Rena... ORPHA:85443
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Farber Disease
Atelectasis, Anemia, Elevated circulating hepatic transaminase concentration, Intrahepatic choles... ORPHA:333
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Granulomatosis With Polyangiitis
Glomerulopathy, Pancreatitis, Hematuria, Pleuritis, Ureteral stenosis, Hydronephrosis, Proteinuri... ORPHA:900
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Vesicoureteral ref... OMIM:615895
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hepatoc... OMIM:201475
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean pl... ORPHA:84064
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Hypospadias, Vesicoureteral reflux, Megacystis, Recur... ORPHA:209905
Idiopathic Hypereosinophilic Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pa... ORPHA:3260
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pancytopenia, Hypercalciuria... OMIM:181000
Systemic Sclerosis
Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Acute kidney injury, Prote... ORPHA:90291
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly, Recurrent respiratory inf... OMIM:617050
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Hypereosinophilia ORPHA:2902
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... ORPHA:178320
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis, Long penis OMIM:246200
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Enuresis nocturna, Recurrent sinusitis, R... ORPHA:420741
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hepatocellul... ORPHA:247585
Lathosterolosis
Anisopoikilocytosis, Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alanine... OMIM:607330
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Phimosis, Thrombocytopenia,... OMIM:305000
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Pulmonary fibrosis OMIM:203300
Q Fever
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Elevated circulating hepatic tr... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Rena... OMIM:212065
Fusariosis
Lung abscess, Abnormality of the kidney, Hypersensitivity pneumonitis, Pleural effusion, Brain ab... ORPHA:228119
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Increased mean platele... OMIM:222470
Gaucher Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Anemia, Hepatomegaly, Cholelithiasis, Panc... ORPHA:355
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, C... OMIM:266920
Overlap Myositis
Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Elevated circulating hepat... ORPHA:206572
Lysosomal Acid Lipase Deficiency
Decreased liver function, Renal salt wasting, Jaundice, Anemia, Elevated circulating hepatic tran... ORPHA:275761
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Portal hypertension, Hepatosplenomegaly, Hepatic failure OMIM:232500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent lower re... OMIM:612541
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Congenital hepatic fibrosis, Multicystic kidney dysplasia ORPHA:2031
Meckel Syndrome 14
Pneumothorax, Polycystic kidney dysplasia, Hepatic fibrosis, Pulmonary hypoplasia OMIM:619879
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Pulmonary interstitial lymphocyte infiltration, B lymphocytopenia, T... OMIM:606367
Adams-Oliver Syndrome
Cirrhosis, Pulmonary artery atresia, Portal hypertension, Thrombocytopenia, Leukopenia, Congenita... ORPHA:974
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Decreased gl... ORPHA:85450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte... OMIM:620005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia, Hepatosplenomeg... ORPHA:2072
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Urinary incontinence, Recurrent urinary tract infections, Neuroge... OMIM:614075
Hermansky-Pudlak Syndrome
Pulmonary fibrosis, Renal insufficiency, Neutropenia ORPHA:79430
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Asplenia, Respiratory tract infection, Recurrent sinopulmo... ORPHA:244
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Agammaglobulinemia, X-Linked
Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Recurrent urinary tract ... OMIM:300755
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:612199
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Abnormal pulmonary interstitial morphology, Normoch... ORPHA:289390
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Thromb... ORPHA:77261
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Absent bronchoalveolar d... OMIM:265120
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leukocytosis, Increased T ce... OMIM:620376
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Hepatic failure ORPHA:97287
Cranioectodermal Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Stage 1 chronic kidney disease, Renal magnesium wasting, Chronic ... OMIM:218330
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:207900
Joubert Syndrome 1
Hepatic fibrosis, Nephropathy, Renal cyst OMIM:213300
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Cirrhosis OMIM:609313
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Pulmonary hypoplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis OMIM:263520
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Reticul... ORPHA:14
Reactive Arthritis
Recurrent urinary tract infections, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Renal hypoplasia, Pulmonary hypoplasia, Splenomeg... OMIM:269860
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:615273
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Glomerulonephritis, Bronchitis, Pleural effusi... ORPHA:1304
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Hepatic fibrosis, Micropenis, Abnormality of the kidney OMIM:209900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s... OMIM:616263
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Emphysema, Anemi... OMIM:613658
Alg9-Cdg
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery... ORPHA:79328
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Ch... ORPHA:77293
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Juvenile Dermatomyositis
Pulmonary fibrosis ORPHA:93672
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts OMIM:311200
Dermatomyositis
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, Enlarged kidney, Increased hepatic gl... ORPHA:79259
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Congenital hepati... ORPHA:564
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Elevated circulating hepatic tr... ORPHA:50918
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Tubulointerstitial fibrosis, T lymphocytopenia, Recurrent sinus... OMIM:607944
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Kawasaki Disease
Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngitis, Leukocytosis, Protei... ORPHA:2331
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Focal segmental... OMIM:614748
Bardet-Biedl Syndrome
Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Neurogenic bladder,... ORPHA:110
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran... ORPHA:99226
Goodpasture Syndrome
Anemia, Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Hemosiderin-laden mac... OMIM:233450
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnormal pulmonary vein morphology, Pleural... ORPHA:199241
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Portal hypertension, Elevated circulating al... OMIM:243800
Cryptococcosis
Pneumonia, Cirrhosis, Pleural effusion, Peritonitis, Lymphoid leukemia, Nodular pattern on pulmon... ORPHA:1546
Alström Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Chronic kidney dis... ORPHA:64
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis, Pulmon... ORPHA:93271
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
Chronic Graft Versus Host Disease
Pneumothorax, Elevated circulating hepatic transaminase concentration, Hematuria, Pancytopenia, P... ORPHA:99921
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Gapo Syndrome
Tubulointerstitial fibrosis, Hepatomegaly OMIM:230740
Pmm2-Cdg
Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Elevated circulating hepa... ORPHA:79318
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothor... OMIM:130050

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 Rbm7

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 Rbm7.

There are 1 publication 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) Rbm7em1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rbm7em1(IMPC)Wtsi Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter