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Gene: Znhit6 MGI:1916996

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Gene Summary

Name:
zinc finger, HIT type 6
Synonyms:
2410019A14Rik

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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
preweaning lethality, complete penetrance Znhit6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Znhit6em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Znhit6em1(IMPC)Mbp HET Early adult 0.00
decreased prepulse inhibition Znhit6em1(IMPC)Mbp HET   Early adult 2.02×10-05
embryonic lethality prior to organogenesis Znhit6em1(IMPC)Mbp HOM   E9.5 0.00
hemorrhage Znhit6em1(IMPC)Mbp HET E15.5 0.00
decreased circulating calcium level Znhit6em1(IMPC)Mbp HET Early adult 6.88×10-06

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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 E14.5-E15.5

Images

14 Images

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Human diseases caused by Znhit6 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 Znhit6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Adamantinoma
Hypercalcemia ORPHA:55881
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... ORPHA:398063
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Intermediate Osteopetrosis
Hypocalcemia, Hepatosplenomegaly ORPHA:210110
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
X-Linked Agammaglobulinemia
Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils ORPHA:47
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy ORPHA:100083
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l... ORPHA:90362
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy OMIM:603552
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, ... OMIM:235255
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hypocalcemia OMIM:259700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hypoca... ORPHA:1655
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia OMIM:620282
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Timothy Syndrome
Hypocalcemia OMIM:601005
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... OMIM:615559
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... ORPHA:37042
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Autosomal Dominant Hypocalcemia
Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly OMIM:259720
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Heme Oxygenase 1 Deficiency
Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c... OMIM:614034
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma ORPHA:2136
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:54251
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Hyperparathyroidism, Neonatal Severe
Calcinosis, Splenomegaly, Hypercalcemia, Hypophosphatemia OMIM:239200
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy ORPHA:667
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:607115
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Griscelli Syndrome Type 2
Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Hypophosphatasia
Hypercalcemia ORPHA:436
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Pearson Syndrome
Splenomegaly, Hypophosphatemia, Hypokalemia, Bone marrow hypocellularity, Hypocalcemia, Hypomagne... ORPHA:699
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr... OMIM:619750
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Leishmaniasis
Splenomegaly, Hypoalbuminemia, Lymphadenopathy ORPHA:507
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... OMIM:308240
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Enlarged tonsils, Bone marrow hypocellularity, Elevated circulating creatine kinase... ORPHA:2785
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Nephroblastoma
Lymphadenopathy ORPHA:654
Lymphoproliferative Syndrome 1
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:613011
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Griscelli Syndrome
Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603553
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
22Q11.2 Deletion Syndrome
Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Abnormality of the tonsils ORPHA:567
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Papa Syndrome
Lymphadenopathy ORPHA:69126
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:619644
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c... OMIM:619802
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Adult-Onset Still Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:829
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Increased circu... OMIM:619991
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Cinca Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1451
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Legionnaires Disease
Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... ORPHA:540
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Digeorge Syndrome
Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia OMIM:188400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,... OMIM:615895
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia, Hepatosplenomegaly OMIM:619503
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Thymoma, Increased circulating renin level, Hyperuricemia ORPHA:85138
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy OMIM:617591
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Pheochromocytoma
Hypercalcemia OMIM:171300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Graft Versus Host Disease
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617718
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Charge Syndrome
Hypocalcemia, Aplasia/Hypoplasia of the thymus OMIM:214800
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Hypercalcemia ORPHA:653
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:50918
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Grfoma
Neoplasm of the thymus, Hypercalcemia ORPHA:97261
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Thymoma ORPHA:276152
H Syndrome
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hypocalcemic seizures OMIM:612301
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hepatosplen... OMIM:615688
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Poems Syndrome
Lymphadenopathy ORPHA:2905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Cherubism
Submandibular lymph node enlargement OMIM:118400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Sarcoidosis
Abnormal lymph node morphology, Hypercalcemia, Lymphadenopathy ORPHA:797
Ppoma
Hypercalcemia ORPHA:97278
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:32960
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Somatostatinoma
Hypercalcemia ORPHA:97283
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Thymoma ORPHA:652
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Glucagonoma
Hypercalcemia ORPHA:97280
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Hypersplenism, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1304
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... ORPHA:449395
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenopathy ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Fatiguable weakness of proximal limb muscles, Abnormal lymph node morphology ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Leptospirosis
Hyperproteinemia, Lymphadenopathy ORPHA:509
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Sotos Syndrome
Hypercalcemia ORPHA:821
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, 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 Znhit6

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 Znhit6.

No publications found that use IMPC mice or data for Znhit6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Znhit6em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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