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Gene: Adamts9 MGI:1916320

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Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 9
Synonyms:
1810011L16Rik,  E030027K14Rik,  8430403M15Rik,  Mhdaund4,  Gsfund3,  UND3,  Mhdaund3,  UND4

Order Alleles

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
embryonic lethality prior to organogenesis Adamts9tm1b(KOMP)Wtsi HOM   E9.5 0.00
abnormal lymph node morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Adamts9tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal heart morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal eye morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged heart Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
embryonic growth retardation Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

View images
Adult LacZ

LacZ Images Section

22 Images

View images
X-ray

XRay Images Skull Lateral Orientation

3 Images

View images
X-ray

XRay Images Forepaw

3 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Hind Leg and Hip

3 Images

View images

Human diseases caused by Adamts9 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 Adamts9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Ethanolaminosis
Cardiomegaly OMIM:227150
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Apolipoprotein A-I Deficiency
Lymphadenopathy, Splenomegaly ORPHA:425
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:608971
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy ORPHA:858
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Mu-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100025
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:603552
Lcat Deficiency
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:650
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly, Mediastinal lymp... OMIM:615559
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Immunodeficiency 64
Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphade... OMIM:618534
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Schnitzler Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98848
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:607594
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Pseudo-Torch Syndrome 3
Lymphadenitis, Cardiomegaly OMIM:618886
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Cardiomyopathy ORPHA:3386
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619375
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:609981
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy ORPHA:353298
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Tularemia
Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Lymphadenopathy, Cervica... ORPHA:3392
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Omenn Syndrome
Hypoplasia of the thymus, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:603554
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Griscelli Syndrome Type 2
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79477
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Adult-Onset Still Disease
Pericarditis, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Bone marrow h... ORPHA:829
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatomegaly ORPHA:83469
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Cardiomegaly, S... OMIM:602782
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes, Lymphadenopathy ORPHA:911
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Lymphadenopathy, Splenomegaly OMIM:613011
Leishmaniasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:507
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:36412
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:308240
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly, Lympha... OMIM:603909
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:618935
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3162
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Griscelli Syndrome
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Legionnaires Disease
Endocarditis, Pericarditis, Splenomegaly, Myocarditis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Felty Syndrome
Pericarditis, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Mixed Connective Tissue Disease
Pericarditis, Hepatomegaly, Splenomegaly, Myocarditis, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Thymoma
Pericarditis, Neoplasm of the thymus, Lymphadenopathy, Myocarditis ORPHA:99867
Primary Myelofibrosis
Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Autoimmune Lymphoproliferative Syndrome, Type V
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:616100
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Castleman Disease
Restrictive cardiomyopathy, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymp... ORPHA:160
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Cinca Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:1451
Omenn Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:39041
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:169090
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:257200
Nephroblastoma
Lymphadenopathy ORPHA:654
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Enlarged kidney OMIM:608836
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Hepatomegaly, ... ORPHA:781
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100080
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Pericardial effusion, Lymphadenopathy ORPHA:199241
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100026
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormality of the thymus ORPHA:2463
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Left ... ORPHA:31150
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy ORPHA:79126
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Lig4 Syndrome
Hepatomegaly, Lymphadenopathy ORPHA:99812
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepato... ORPHA:581
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100082
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Myocarditis ORPHA:139402
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:233710
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Mevalonic Aciduria
Fluctuating hepatomegaly, Hepatosplenomegaly, Fluctuating splenomegaly, Lymphadenopathy OMIM:610377
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy ORPHA:93552
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:540
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:97287
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Poems Syndrome
Pericardial effusion, Visceromegaly, Lymphadenopathy ORPHA:2905
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:306400
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:617591
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Hepatosplenomegaly, Generalized lymphadenopathy OMIM:618986
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:260920
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Abnormality of the lymph no... ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Lassa Fever
Lymphadenopathy ORPHA:99824
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Cardiomegaly OMIM:215140
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:267700
Chediak-Higashi Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:214500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Bone marrow hypocellulari... OMIM:615688
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney ORPHA:168569
Waldenström Macroglobulinemia
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:33226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98849
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Abnormal myocardium morphology, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:32960
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Chyloperica... ORPHA:538
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Hennekam Syndrome
Pericardial effusion, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma, Lymphadenopathy ORPHA:2136
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis, Lymphadenopathy ORPHA:100077
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
X-Linked Lymphoproliferative Disease
Myocarditis, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Lym... ORPHA:2442
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Chédiak-Higashi Syndrome
Pericardial effusion, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:167
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hepatomegaly, Hypersplenism, Splenomegaly, Bone marrow hyp... ORPHA:3261
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy ORPHA:100075
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Splenomegaly OMIM:256040
Duodenal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis, Lymphadenopathy ORPHA:100076
Coccidioidomycosis
Mediastinal lymphadenopathy, Abnormality of the spleen, Pericarditis, Lymphadenopathy ORPHA:228123
Brucellosis
Endocarditis, Pericarditis, Abnormal aortic valve morphology, Hepatomegaly, Hypersplenism, Spleno... ORPHA:1304
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Lymphadenopathy, Splenomegaly ORPHA:667
Familial Mediterranean Fever
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:342
Behçet Disease
Endocarditis, Pericarditis, Splenomegaly, Abnormal myocardium morphology, Lymphadenopathy ORPHA:117
Beckwith-Wiedemann Syndrome
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... ORPHA:116
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Igg4-Related Kidney Disease
Lymphadenitis, Pericarditis, Lymphadenopathy, Enlarged kidney ORPHA:449395
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy ORPHA:100079
Cherubism
Submandibular lymph node enlargement OMIM:118400
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Mediastinal lympha... OMIM:181000
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Abnormal cardia... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250
African Trypanosomiasis
Pericarditis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Myocarditis, Lymphadenopathy ORPHA:3385
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Leptospirosis
Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:509
Plague
Endocarditis, Lymphadenitis, Hepatomegaly, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
Sarcoidosis
Hepatomegaly, Abnormality of the lymph nodes, Lymphadenopathy ORPHA:797
Blau Syndrome
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:90340
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification ORPHA:51608
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563

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 Adamts9

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 Adamts9.

No publications found that use IMPC mice or data for Adamts9.

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MGI Allele Allele Type Produced
Adamts9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamts9tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Adamts9tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice

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