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Gene: 6430548M08Rik MGI:2443793

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Gene Summary

Name:
RIKEN cDNA 6430548M08 gene
Synonyms:
N/A

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level 6430548M08Rikem1(IMPC)Mbp HOM Early adult 4.52×10-07
enlarged lymph nodes 6430548M08Rikem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney 6430548M08Rikem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology 6430548M08Rikem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology 6430548M08Rikem1(IMPC)Mbp HOM Early adult 0.00
increased circulating calcium level 6430548M08Rikem1(IMPC)Mbp HOM   Early adult 5.08×10-05

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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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Human diseases caused by 6430548M08Rik mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to 6430548M08Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Adamantinoma
Hypercalcemia ORPHA:55881
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Lymphadenopathy ORPHA:69077
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Enlarged kidney, Hepatomegaly OMIM:615285
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Neoplasm of the th... ORPHA:97289
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria OMIM:145980
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Hepatomegaly ORPHA:172
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Kerion Celsi
Lymphadenopathy ORPHA:499
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... OMIM:239200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno... ORPHA:29073
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,... OMIM:618440
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... ORPHA:97290
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:100024
2P21 Microdeletion Syndrome
Nephrolithiasis, Hypocalcemia, Cystinuria ORPHA:163693
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603552
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy ORPHA:100083
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia OMIM:612089
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy ORPHA:79292
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hypophosphatasia
Hypercalcemia ORPHA:436
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Generalized lymphadenopathy, Elevated circulati... OMIM:615559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, Incre... OMIM:614034
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232220
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... ORPHA:319487
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Kaposiform Lymphangiomatosis
Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal lymphatic vessel ... ORPHA:464329
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy OMIM:212050
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... OMIM:208540
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the kidney, Elevated circulating C-reactive p... ORPHA:54251
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis,... ORPHA:168569
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia OMIM:620282
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... ORPHA:95409
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... ORPHA:398063
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis OMIM:602361
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... ORPHA:369837
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly ORPHA:79128
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria OMIM:606407
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Monosomy 13Q34
Fetal pyelectasis, Hypercalcemia ORPHA:96168
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia OMIM:200995
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Addison Disease
Hyponatremia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Thymo... ORPHA:85138
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Cervi... ORPHA:653
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... ORPHA:1655
Intermediate Osteopetrosis
Hypocalcemia, Hepatosplenomegaly ORPHA:210110
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circulating... OMIM:619644
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia ORPHA:476126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... ORPHA:731
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Nephroblastoma
Hematuria, Nephroblastoma, Lymphadenopathy ORPHA:654
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l... ORPHA:90362
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... OMIM:602450
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:607115
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy OMIM:618495
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
X-Linked Agammaglobulinemia
Abnormality of the lymphatic system, Hypocalcemia, Abnormality of the tonsils ORPHA:47
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi... OMIM:612462
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... OMIM:619750
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy ORPHA:858
Leishmaniasis
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Lymphadenopathy ORPHA:507
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... OMIM:308240
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... ORPHA:160
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... ORPHA:73224
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Lymphoproliferative Syndrome 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:613011
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... ORPHA:247353
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Tubulointerstitial nephritis, Ne... ORPHA:37042
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Grfoma
Neoplasm of the thymus, Hepatomegaly, Hypercalcemia ORPHA:97261
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hypocalcemia, Hepatomegaly OMIM:259700
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia, Thymoma ORPHA:276152
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... OMIM:603553
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... ORPHA:116
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Omenn Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Hypoproteinemia OMIM:603554
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... ORPHA:508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Abnormal lymph... ORPHA:797
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immunodeficiency 7
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94089
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Timothy Syndrome
Hypocalcemia, Cardiomegaly OMIM:601005
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... OMIM:603909
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Abnormal circulating li... ORPHA:381
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... ORPHA:26793
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... OMIM:618935
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma... ORPHA:549
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:829
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:540
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... ORPHA:79328
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Hypo... ORPHA:2136
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t... ORPHA:904
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Ly... OMIM:615895
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Hypertriglyceridemia, Increased circulating ferritin concentr... OMIM:619802
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney OMIM:306955
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Hypocalcemia ORPHA:3426
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia ORPHA:97282
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Roifman Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Enlarged tonsils, Proximal rena... ORPHA:2785
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Cinca Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1451
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... OMIM:194050
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia ORPHA:913
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Somatostatinoma
Hepatomegaly, Hypercalcemia ORPHA:97283
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Lymphadenopathy, He... ORPHA:36412
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalcemia, Thymoma, Hypercalciuria ORPHA:652
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Hypomagnesemia, Splenomegaly, Lacticaciduria, Ren... ORPHA:699
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia OMIM:607143
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3162
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... OMIM:610377
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Omenn Syndrome
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Lymphadenopathy ORPHA:39041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils, Hepatomegaly ORPHA:276
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Glucagonoma
Hepatomegaly, Hypercalcemia ORPHA:97280
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Polycystic kidney dysplasia, Hyperbilirubinemia, Enlarge... OMIM:300855
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... ORPHA:2035
Niemann-Pick Disease, Type A
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:257200
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79444
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Abn... ORPHA:93552
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Primary Myelofibrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia ORPHA:667
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration ORPHA:100093
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Cardiac-Urogenital Syndrome
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias OMIM:618280
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Bone marrow hypo... ORPHA:47612
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tubulointerstiti... ORPHA:358
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Lymphadenopathy OMIM:617591
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Hypocalcemia ORPHA:746
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy ORPHA:139402
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Nephropathy ORPHA:809
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79443
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne... OMIM:312870
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Recurrent urinary tract infections, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... OMIM:260920
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria ORPHA:514
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Elevated circulating... OMIM:619991
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
22Q11.2 Deletion Syndrome
Hypospadias, Abnormality of the tonsils, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus... ORPHA:567
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... ORPHA:538
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617718
Graft Versus Host Disease
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Cranioectodermal Dysplasia 1
Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu... OMIM:218330
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Hepatomegaly, Chronic noninfectious lymphadenopathy, Ele... ORPHA:100085
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233710
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Cartilage-Hair Hypoplasia
Hepatomegaly, Mucopolysacchariduria, Hypocalcemia ORPHA:175
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... ORPHA:556
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233690
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:33226
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Lymphadenopathy ORPHA:293173
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly ORPHA:79124
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatospleno... OMIM:602782
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Elevated circulating C-reactive protein concentration, Splen... OMIM:615688
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Abnormal thymus mo... OMIM:188400
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... ORPHA:167
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Recurrent urinary tract infections OMIM:300755
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Q Fever
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hematuria, Hepatosplenomegaly ORPHA:781
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Chediak-Higashi Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:214500
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:32960
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Poems Syndrome
Visceromegaly, Lymphadenopathy ORPHA:2905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98849
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:306400
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyp... ORPHA:3261
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... ORPHA:99826
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hepatosplenomegaly, Urinary urgency, Hypocalcemia, Hypomagnesemia, Mic... OMIM:619503
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Micropenis, Apl... OMIM:214800
Brucellosis
Hepatomegaly, Glomerulonephritis, Elevated circulating C-reactive protein concentration, Hyperspl... ORPHA:1304
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria ORPHA:536
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Mediastinal lymphadeno... ORPHA:228123
Selective Igm Deficiency
Lymphadenitis, Recurrent urinary tract infections, Lymphadenopathy ORPHA:331235
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Lymphadenopathy ORPHA:449432
Immunodeficiency 31C
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:614162
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conj... OMIM:243800
Leptospirosis
Hepatomegaly, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Acute kidney injury ORPHA:509
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
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
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Proteinuria, Elevated circulating creatine kinase concentration, Splenomegaly, Lymp... ORPHA:99827
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Behçet Disease
Splenomegaly, Renal insufficiency, Glomerulopathy, Lymphadenopathy ORPHA:117
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, N... ORPHA:90340
Primary Sjögren Syndrome
Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Lymphadenopathy, Tubulointers... ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Lymphadenopathy ORPHA:79078
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenomegaly, Lympha... ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Increased urinary cortisol level, Abnormal lymph node morphology ORPHA:99889

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 6430548M08Rik

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 6430548M08Rik.

No publications found that use IMPC mice or data for 6430548M08Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
6430548M08Riktm42359(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
6430548M08Riktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
6430548M08Rikem1(IMPC)Mbp Exon Deletion Mice, Tissue
6430548M08Riktm42359(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
6430548M08Riktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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