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Gene: Lsm8 MGI:1923772

Gene Summary

Name:

LSM8 homolog, U6 small nuclear RNA associated

Synonyms:

2010003I05Rik, Lsm8

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating total protein level	Lsm8^em1(IMPC)Mbp	HET	Early adult	2.33×10^-06
preweaning lethality, complete penetrance	Lsm8^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
small seminal vesicle	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal seminal vesicle morphology	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating creatinine level	Lsm8^em1(IMPC)Mbp	HET	Early adult	2.64×10^-10
increased circulating alanine transaminase level	Lsm8^em1(IMPC)Mbp	HET	Early adult	6.92×10^-39
increased blood urea nitrogen level	Lsm8^em1(IMPC)Mbp	HET	Early adult	3.18×10^-06
embryonic lethality prior to organogenesis	Lsm8^em1(IMPC)Mbp	HOM	E9.5	0.00
increased circulating serum albumin level	Lsm8^em1(IMPC)Mbp	HET	Early adult	1.65×10^-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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Lsm8 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.

Human diseases associated with Lsm8 (0 diseases)
Human diseases predicted to be associated with Lsm8 (440 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lsm8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Multiple Myeloma	Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine c...	ORPHA:29073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h...	OMIM:617872
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia	OMIM:152800
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Abnormality of the ovary, Hyperuricemia	ORPHA:543
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hyperproteinemia	ORPHA:158048
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Increased LDL cho...	OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Elevated circulating C-reactive protein concentration, Elevated hapt...	OMIM:620632
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 27A	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Enlarged mesenteric lymph node	OMIM:209950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Omenn Syndrome	Lymphadenopathy, Splenomegaly, Hypoproteinemia, Hypoplasia of the thymus	OMIM:603554
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Increased total bilirubin, Hyponatremia, ...	OMIM:603553
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Abnormal spleen physiology, Hypo...	ORPHA:398063
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology, ...	ORPHA:54251
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly	OMIM:603552
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, H...	ORPHA:1655
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:231111
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Increased circulating fe...	OMIM:613101
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiecta...	OMIM:235255
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Kerion Celsi	Lymphadenopathy	ORPHA:499
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Hypoproteinemia	OMIM:608093
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia	OMIM:619013
Saccharopinuria	Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnor...	ORPHA:3124
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:226300
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypocalcemia, Hypoproteinemia, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad...	OMIM:620514
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating...	OMIM:616050
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Leishmaniasis	Hypoalbuminemia, Splenomegaly, Lymphadenopathy	ORPHA:507
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Primary testicular failure, Lymphadenopathy, Decreased c...	ORPHA:85450
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Lymphadenopathy	ORPHA:100025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Leptospirosis	Lymphadenopathy, Hyperproteinemia	ORPHA:509
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenopathy, Hypoproteinemia, Lymphadenitis, Elevated circulating creatine kinase concentrati...	OMIM:615895
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism	OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentra...	OMIM:308240
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Hyperparathyroidism	OMIM:620366
Macrophage Activation Syndrome	Hypertriglyceridemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Spl...	ORPHA:158061
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia	OMIM:613845
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology...	ORPHA:2315
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co...	OMIM:223360
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased response to growth hormone stimulation test	OMIM:618347
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Refractory Anemia With Excess Blasts	Bone marrow hypocellularity, Abnormal circulating albumin concentration, Abnormal circulating pro...	ORPHA:86839
Reni Syndrome	Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Cryptorchidism, Micropenis	OMIM:617575
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Decreased circulating iron concentration	OMIM:212050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Dengue Fever	Hypoproteinemia	ORPHA:99828
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autoimmune Lymphoproliferative Syndrome, Type Iii	Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	OMIM:615559
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:79126
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Immunodeficiency 32B	Hypoalbuminemia, Splenomegaly	OMIM:226990
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Preeclampsia	Polycystic ovaries, Elevated circulating creatinine concentration	ORPHA:275555
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asplenia, Increased circu...	OMIM:614034
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Lymphangiectasis	OMIM:602579
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:607115
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:619750
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Varicocele,...	ORPHA:49041
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly	OMIM:608776
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con...	OMIM:242150
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Hepatoportal Sclerosis	Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia, Hypersplenism	ORPHA:64743
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Lymphadenopathy, Splenomegaly, Hypoalbuminemia, Increased circulating ferri...	ORPHA:540
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Griscelli Syndrome Type 2	Splenomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Cockayne Syndrome Type 1	Increased blood urea nitrogen, Male hypogonadism, Cryptorchidism	ORPHA:90321
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I...	OMIM:613179
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, Splenom...	ORPHA:167
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism	OMIM:618183
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener...	OMIM:602450
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Elevated circulating alpha-fetoprote...	OMIM:251880
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Lymphoproliferative Syndrome 1	Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating...	OMIM:613011
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly...	OMIM:235510
Sickle Cell Anemia	Cholelithiasis, Splenic infarction, Unconjugated hyperbilirubinemia, Abnormality of the spleen, E...	ORPHA:232
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy	ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Pineal cyst, Hypotriglycerid...	OMIM:618885
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc	OMIM:617093
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Wolcott-Rallison Syndrome	Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:618048
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Mediastinal lymphadenopathy, Ovarian neoplasm, Lymphadenopathy, Testicu...	ORPHA:83469
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia, Hydrocele testis	ORPHA:567546
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Tafro Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concen...	ORPHA:457077
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:619644
Congenital Enterovirus Infection	Hyperammonemia, Hypoalbuminemia	ORPHA:292
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Griscelli Syndrome	Abnormal circulating lipid concentration, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:381
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomeg...	OMIM:619802
Generalized Pustular Psoriasis	Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopathy	ORPHA:100093
Castleman Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	ORPHA:160
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia, Bile duct proliferation	OMIM:618329
Liver Disease, Severe Congenital	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Pancreatic hypoplasia, Hyperalaninemia, Hypoprotei...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio...	OMIM:617156
Renal Cysts And Diabetes Syndrome	Hypospadias, Hyperuricemia, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancr...	OMIM:137920
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Splenomegaly, Bone marrow hypocellularity	OMIM:617303
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Micropenis, Hepatosplenomegaly	OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Sp...	ORPHA:37042
Immunodeficiency 54	Lymphadenopathy, Splenomegaly, Adrenocorticotropic hormone excess	OMIM:609981
Cinca Syndrome	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:1451
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:619055
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Hypospadias, Hypergalactosemia, Increased circulating iron conce...	OMIM:222470
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617099
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Marburg Hemorrhagic Fever	Lymphadenopathy, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration...	ORPHA:99826
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Igg4-Related Kidney Disease	Prostatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Sialadenitis...	ORPHA:449395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37748
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia...	ORPHA:2298
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism	ORPHA:353298
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Al Amyloidosis	Hypoalbuminemia, Abnormal salivary gland morphology, Increased circulating NT-proBNP concentration	ORPHA:85443
Alg12-Cdg	Hypospadias, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Cryptorchidism, Micropenis	ORPHA:79324
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad...	ORPHA:730
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease...	ORPHA:89842
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration,...	OMIM:610377
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbumi...	ORPHA:186
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia, Hypergonadotropic hypogonadism	OMIM:212065
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s...	ORPHA:2035
Medullary Thyroid Carcinoma	Pheochromocytoma, Nodular goiter, Lymphadenopathy, Primary hyperparathyroidism	ORPHA:1332
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirub...	OMIM:277900
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Splenomegaly	OMIM:607594
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul...	ORPHA:14
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly...	ORPHA:168569
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hype...	OMIM:619381
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Splenomegaly	OMIM:614470
Roifman Syndrome	Lymphadenopathy, Splenomegaly	OMIM:616651
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Lig4 Syndrome	Cryptorchidism, Lymphadenopathy, Hypoplasia of penis	ORPHA:99812
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Legionnaires Disease	Hyponatremia, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity	ORPHA:549
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617718
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lymphadenopathy, Splenomegaly	OMIM:617591
Sting-Associated Vasculopathy, Infantile-Onset	Paratracheal lymphadenopathy, Follicular hyperplasia, Elevated circulating C-reactive protein con...	OMIM:615934
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Bone marrow hypocellularity	ORPHA:505248
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	ORPHA:50918
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio...	ORPHA:447
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:3226
Smith-Lemli-Opitz Syndrome	Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Hypocholesterolemia, Prec...	OMIM:270400
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci...	ORPHA:90363
Juvenile Polyposis Of Infancy	Freckled genitalia, Hypoalbuminemia	ORPHA:79076
Neuroblastoma	Increased circulating ferritin concentration, Lymphadenopathy	ORPHA:635
Primary Sclerosing Cholangitis	Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Neoplasm of the gallbladder, Hypoalbuminemia	ORPHA:171
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly	OMIM:618935
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Orchitis, Elevated circulating C-reactive protein concentration	ORPHA:32960
Pancreatoblastoma	Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Niemann-Pick Disease, Type A	Lymphadenopathy, Splenomegaly	OMIM:257200
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Kawasaki Disease	Hypoalbuminemia, Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:2331
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Tangier Disease	Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatospl...	ORPHA:31150
Primary Myelofibrosis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Small scrotum, Hypoalbumi...	OMIM:613658
Nephroblastoma	Lymphadenopathy	ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hypoproteinemia, Rectocele	ORPHA:2929
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Hypocalcemic tetany, Aplasia of the thymus	ORPHA:83471
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Lymphadenopathy, Elevated circulating C-reactive protein c...	ORPHA:449563
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Immunodeficiency 10	Lymphadenopathy, Splenomegaly	OMIM:612783
Felty Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:47612
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia	OMIM:619418
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Lymphadenopathy, Azoospermia, Pancreatic h...	OMIM:602782
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	OMIM:301078
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly	ORPHA:169090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Bone marrow hypocellulari...	OMIM:615688
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp...	ORPHA:449432
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct proliferation, Splenomegaly, Conjuga...	OMIM:619534
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Familial Pancreatic Carcinoma	Ovarian carcinoma, Hepatosplenomegaly, Lymphadenopathy, Pancreatic adenocarcinoma	ORPHA:1333
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Poems Syndrome	Lymphadenopathy, Increased circulating prolactin concentration, Splenomegaly, Hypogonadism	ORPHA:2905
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Carney Triad	Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Brucellosis	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly, Orchitis, E...	ORPHA:1304
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro...	ORPHA:91500
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulat...	OMIM:256040
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Malakoplakia	Follicular hyperplasia, Prostate neoplasm, Orchitis	ORPHA:556
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Lymphadenopathy, Splenomegaly, Hypophosphatemia	ORPHA:667
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Pheochromocytoma, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Par...	ORPHA:653
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Waldenström Macroglobulinemia	Lymphadenopathy, Splenomegaly	ORPHA:33226
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Abnormal morphology of femal...	ORPHA:538
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of...	ORPHA:228123
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly	ORPHA:75565
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Crimean-Congo Hemorrhagic Fever	Lymphadenopathy, Parotitis, Elevated circulating creatine kinase concentration, Orchitis, Splenom...	ORPHA:99827
Chediak-Higashi Syndrome	Lymphadenopathy, Splenomegaly	OMIM:214500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Splenomegaly	ORPHA:98849
Sarcoidosis	Enlarged lacrimal glands, Abnormal lymph node morphology, Lymphadenopathy, Parotitis, Hypercalcem...	ORPHA:797
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Q Fever	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Congenital Syphilis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Familial Mediterranean Fever	Lymphadenopathy, Splenomegaly, Orchitis	ORPHA:342
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:306400
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly	ORPHA:1572
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Autoimmune Lymphoproliferative Syndrome	Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Behçet Disease	Lymphadenopathy, Splenomegaly, Orchitis	ORPHA:117
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Spleno...	OMIM:181000
Pmm2-Cdg	Reduced thyroxin-binding globulin, Decreased testicular size, Hypoalbuminemia, Elevated circulati...	ORPHA:79318
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Primary Sjögren Syndrome	Parotitis, Vaginal dryness, Lymphadenopathy	ORPHA:289390
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pheochromocytoma, Neoplasm of the thymus, Adrenal hyperplasia, Pr...	ORPHA:99889
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly	ORPHA:90340
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
African Trypanosomiasis	Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Abnormal prolactin level	ORPHA:3385

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 Lsm8

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Lsm8.

No publications found that use IMPC mice or data for Lsm8.

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MGI Allele	Allele Type	Produced
Lsm8^{tm42755(L1L2_6XOspnEnh_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lsm8^{tm42755(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lsm8^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lsm8 MGI:1923772

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

X-ray

Human diseases caused by Lsm8 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data