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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
preweaning lethality, complete penetrance	Lsm8^em1(IMPC)Mbp	HOM	Early adult	0.00
small seminal vesicle	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating creatinine level	Lsm8^em1(IMPC)Mbp	HET	Early adult	2.44×10^-06
increased circulating alanine transaminase level	Lsm8^em1(IMPC)Mbp	HET	Early adult	6.91×10^-39
increased circulating total protein level	Lsm8^em1(IMPC)Mbp	HET	Early adult	2.33×10^-06
embryonic lethality prior to organogenesis	Lsm8^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged lymph nodes	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating serum albumin level	Lsm8^em1(IMPC)Mbp	HET	Early adult	1.57×10^-08
abnormal seminal vesicle morphology	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Lsm8^em1(IMPC)Mbp	HET	Early adult	0.00
increased blood urea nitrogen level	Lsm8^em1(IMPC)Mbp	HET	Early adult	4.01×10^-05

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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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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

2 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 (432 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, Abnormality of circulating enzyme level	ORPHA:2843
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypoproteinemia	OMIM:207731
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	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:617872
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Neonatal hypoproteinemia	OMIM:152800
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Abnormal lymph node morphology	ORPHA:543
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri...	ORPHA:90041
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Adrenocorticotrop...	ORPHA:100083
Hemophagocytic Syndrome Associated With An Infection	Splenomegaly, Hyperproteinemia, Hypertriglyceridemia, Increased circulating ferritin concentration	ORPHA:158048
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Omenn Syndrome	Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen...	ORPHA:398063
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	OMIM:603553
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Preeclampsia	Elevated circulating creatinine concentration, Polycystic ovaries	ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy	OMIM:603552
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Kerion Celsi	Lymphadenopathy	ORPHA:499
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal testis morphology, Elevated circulating C-reactive ...	ORPHA:54251
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectasia, Hepatosple...	ORPHA:1655
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary ly...	OMIM:235255
Primary Intestinal Lymphangiectasia	Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l...	ORPHA:90362
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Intestinal lymphangiectasia, Hypoalbuminemia	OMIM:226300
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Hypoproteinemia	OMIM:608093
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:616050
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly	OMIM:619013
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Leishmaniasis	Splenomegaly, Hypoalbuminemia, Lymphadenopathy	ORPHA:507
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Lymphadenopathy	ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop...	OMIM:308240
Leptospirosis	Hyperproteinemia, Lymphadenopathy	ORPHA:509
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,...	OMIM:615895
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Abnormality of the female genitalia...	ORPHA:2315
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia	OMIM:620366
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased response to growth hormone stimulation test	OMIM:618347
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron, Lymphadenopathy	OMIM:212050
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Unc...	ORPHA:232
Orthostatic Hypotension 1	Hypomagnesemia, Reduced circulating prolactin concentration, Increased blood urea nitrogen	OMIM:223360
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone marr...	ORPHA:86839
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Dengue Fever	Hypoproteinemia	ORPHA:99828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	OMIM:615559
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 32B	Splenomegaly, Hypoalbuminemia	OMIM:226990
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia	OMIM:620282
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:79126
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Pancreatoblastoma	Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis	OMIM:617575
Heme Oxygenase 1 Deficiency	Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c...	OMIM:614034
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Hypoalbuminemia	OMIM:602579
Cinca Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:607115
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	OMIM:619750
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	ORPHA:540
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,...	OMIM:613179
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	ORPHA:167
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Griscelli Syndrome Type 2	Splenomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Thymic Neuroendocrine Tumor	Hypercalcemia, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Neoplasm of th...	ORPHA:97289
Cockayne Syndrome Type 1	Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen	ORPHA:90321
Lymphoproliferative Syndrome 1	Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote...	OMIM:613011
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy...	OMIM:251880
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo...	OMIM:602450
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy	ORPHA:69077
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:618048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Pulmonary lymphangiectasi...	OMIM:235510
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Pineal ...	OMIM:618885
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:619644
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Adult-Onset Still Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:829
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym...	ORPHA:83469
Griscelli Syndrome	Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Aicardi-Goutieres Syndrome 9	Micropenis, Hypoalbuminemia, Hepatosplenomegaly	OMIM:619487
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c...	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia	OMIM:618329
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Hypoalbuminemia, Bone marrow hypocellularity	OMIM:617303
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Immunodeficiency 54	Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy	OMIM:609981
Renal Cysts And Diabetes Syndrome	Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ...	OMIM:137920
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Liver Disease, Severe Congenital	Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla...	OMIM:619991
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:37042
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Cinca Syndrome	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:1451
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration	ORPHA:100093
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly...	OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
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	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617099
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Trichohepatoenteric Syndrome 1	Hypospadias, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality...	OMIM:222470
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elevated circulati...	ORPHA:99826
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad...	ORPHA:730
Roifman Syndrome	Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Al Amyloidosis	Abnormal salivary gland morphology, Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Pol...	ORPHA:2298
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Alg12-Cdg	Hyponatremia, Hypospadias, Cryptorchidism, Hypoalbuminemia, Hypocholesterolemia, Micropenis	ORPHA:79324
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Medullary Thyroid Carcinoma	Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormality of the anterior...	ORPHA:449395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp...	OMIM:619381
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617718
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Elevated circulating C-reactive protein concentration, Paratracheal lymph...	OMIM:615934
Legionnaires Disease	Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Hepatosplenomegaly	ORPHA:505248
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:50918
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis,...	ORPHA:168569
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly...	ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Hypertriglyceridemia, Lymphadenopathy	OMIM:617591
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Splenomegaly, Cryp...	OMIM:270400
Lig4 Syndrome	Cryptorchidism, Hypoplasia of penis, Lymphadenopathy	ORPHA:99812
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Freckled genitalia	ORPHA:79076
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Primary Sclerosing Cholangitis	Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Neoplasm of the gallbladder, Cholelithiasis	ORPHA:171
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:32960
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Graft Versus Host Disease	Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Primary Hepatic Neuroendocrine Carcinoma	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Elevated circulat...	ORPHA:100085
Nephroblastoma	Lymphadenopathy	ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Bile duct proliferation, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubi...	OMIM:613658
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hypoproteinemia, Rectocele	ORPHA:2929
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat...	ORPHA:99829
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Epididymitis, Prostatitis	OMIM:300755
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the anterior pitu...	ORPHA:449563
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Histiocytosis-Lymphadenopathy Plus Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega...	OMIM:602782
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hepatosplen...	OMIM:615688
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Igg4-Related Submandibular Gland Disease	Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy, Enlargement...	ORPHA:449432
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Familial Pancreatic Carcinoma	Ovarian carcinoma, Pancreatic adenocarcinoma, Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating...	OMIM:619534
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma	ORPHA:2136
Carney Triad	Mediastinal lymphadenopathy, Pheochromocytoma, Lymphadenopathy	ORPHA:139411
Poems Syndrome	Hypogonadism, Increased circulating prolactin concentration, Lymphadenopathy	ORPHA:2905
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Splenomegaly, Orchitis, Epi...	ORPHA:1304
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy	ORPHA:667
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary h...	ORPHA:653
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia	ORPHA:75565
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy	ORPHA:33226
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal...	ORPHA:538
Malakoplakia	Orchitis, Prostate neoplasm, Follicular hyperplasia	ORPHA:556
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:228123
Chediak-Higashi Syndrome	Splenomegaly, Lymphadenopathy	OMIM:214500
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Orchitis, Splenomegaly, Epididymitis, Lymphad...	ORPHA:99827
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
Sarcoidosis	Hypercalcemia, Abnormal reproductive system morphology, Enlarged lacrimal glands, Abnormal lymph ...	ORPHA:797
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Q Fever	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:781
Familial Mediterranean Fever	Orchitis, Splenomegaly, Lymphadenopathy	ORPHA:342
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal...	ORPHA:79078
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Behçet Disease	Orchitis, Splenomegaly, Lymphadenopathy	ORPHA:117
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduced thyroxi...	ORPHA:79318
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Primary Sjögren Syndrome	Vaginal dryness, Parotitis, Lymphadenopathy	ORPHA:289390
Blau Syndrome	Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:90340
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Abnormal prolactin level, Lymphadenopathy	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

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Lsm8 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data