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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:
Gsfund3,  UND4,  Mhdaund3,  E030027K14Rik,  UND3,  8430403M15Rik,  1810011L16Rik,  Mhdaund4

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
enlarged heart Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Adamts9tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal eye morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
embryonic growth retardation Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
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 embryo size Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal heart morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 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 0.0% (0 of 2)
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 50% (1 of 2)
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 100% (2 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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.

Adult LacZ

LacZ Images Section

22 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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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
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
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
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
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
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Multiple c... ORPHA:241
Ethanolaminosis
Cardiomegaly OMIM:227150
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... OMIM:145250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Partial albini... OMIM:193510
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Congenital Toxoplasmosis
Lymphadenopathy, Cardiomegaly, Hepatomegaly ORPHA:858
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mu-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:240500
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Generalized lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Lymphadeno... OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Splen... OMIM:618534
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Pericarditis, Hepatomegaly, Splenomegaly ORPHA:85414
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormal lymph node morphology, Hepatomegaly, Splenomegaly OMIM:612840
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... OMIM:300280
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Immunodeficiency 27A
Hepatosplenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256550
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... ORPHA:85451
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Mulibrey Nanism
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction OMIM:253250
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:616651
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Hemochromatosis, Type 1
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:235200
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis OMIM:618886
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619375
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Hepatomegaly, Cervical lymphadenopathy, Asplenia OMIM:614034
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Tularemia
Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Cervica... ORPHA:3392
Immunodeficiency 7
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:615387
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:615122
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy ORPHA:353298
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Cardiomegaly, Aortic valve stenosis, Abnormal atrioventricular valve morph... ORPHA:324410
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79477
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:3226
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Lymphoproliferative Syndrome 1
Lymphadenopathy, Pericardial effusion, Hepatomegaly, Splenomegaly OMIM:613011
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatomegaly ORPHA:83469
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:601859
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Pericarditis... ORPHA:829
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Hepatomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:36412
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Lymphadenitis ORPHA:911
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy OMIM:617713
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Splenic infarction OMIM:603903
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Cervical lymphadenopathy, Pulmonic stenosis, Atrial septal defect, Ventricula... OMIM:602782
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Spl... OMIM:603909
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:618935
Griscelli Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Felty Syndrome
Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Pericarditis, Splenomegaly ORPHA:47612
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:257200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Legionnaires Disease
Myocarditis, Endocarditis, Bone marrow hypocellularity, Lymphadenopathy, Pericarditis, Splenomegaly ORPHA:549
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Restrictive cardiomyopathy, Lymphadenopathy,... ORPHA:160
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Aplasia of the thymus, Lymph node hypo... OMIM:602450
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Craniofaciofrontodigital Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... ORPHA:363705
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619644
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... ORPHA:1329
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Pericarditis, Splenomegaly ORPHA:809
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly ORPHA:465508
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:268800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Cardiomyopathy, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Dilated cardiomyopathy, Splenomegaly OMIM:615895
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Hepatomegaly, Abnormality of the spleen ORPHA:79456
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Immunodeficiency 98 With Autoinflammation, X-Linked
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly OMIM:301078
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603554
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:619802
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:1451
Q Fever
Myocarditis, Hepatosplenomegaly, Endocarditis, Hepatomegaly, Abnormal heart valve morphology, Lym... ORPHA:781
Papa Syndrome
Lymphadenopathy ORPHA:69126
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Hepatomegaly ORPHA:85450
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100080
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Nephroblastoma
Lymphadenopathy ORPHA:654
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:608013
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Acute Interstitial Pneumonia
Lymphadenopathy, Pericardial effusion ORPHA:79126
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... OMIM:261740
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... ORPHA:3384
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy, Pericardial effusion ORPHA:199241
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:608836
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Left ventricular hypertrophy, Coronary artery sten... ORPHA:31150
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Absence of lymph node germinal center, Enlarged tonsils OMIM:308230
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100082
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly ORPHA:99812
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Mevalonic Aciduria
Hepatosplenomegaly, Fluctuating hepatomegaly, Lymphadenopathy, Fluctuating splenomegaly OMIM:610377
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:540
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Hilar lymph node enlargement, Right atrial enlargement, Mediastinal lymphadenopathy... OMIM:620233
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy ORPHA:139402
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis OMIM:233710
Kikuchi-Fujimoto Disease
Myocarditis, Generalized lymphadenopathy, Cervical lymphadenopathy, Hepatomegaly, Abnormal lymph ... ORPHA:50918
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603553
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Pericardial effusion ORPHA:93552
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Abnormal mitral valve morphology, Hepatomegaly, Abnormal myocardium morpho... ORPHA:581
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:267700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomyopathy, Cardiomegaly, Hepatomegaly ORPHA:228308
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:617591
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Poems Syndrome
Lymphadenopathy, Visceromegaly, Pericardial effusion ORPHA:2905
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Hepatomegaly, Polysplenia, Lymphadenopathy, Accessory spleen, Splenome... OMIM:619418
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:260920
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center ORPHA:79124
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Pericarditis, Abnormal myocardium morphology, Splenomegaly ORPHA:32960
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:33226
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Chediak-Higashi Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:214500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Dilated cardiomyo... OMIM:615688
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Hennekam Syndrome
Lymphadenopathy, Pericardial effusion, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma ORPHA:2136
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney ORPHA:168569
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis OMIM:306400
Ileal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100077
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Chyloperica... ORPHA:538
Lymphatic Filariasis
Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis ORPHA:2035
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Ogden Syndrome
Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial septal defect, ... OMIM:300855
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
X-Linked Lymphoproliferative Disease
Myocarditis, Hepatosplenomegaly, Cervical lymphadenopathy, Bone marrow hypocellularity, Lymphaden... ORPHA:2442
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:167
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Brucellosis
Myocarditis, Endocarditis, Hepatomegaly, Hypersplenism, Lymphadenopathy, Abnormal aortic valve mo... ORPHA:1304
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:365
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypersplenism, ... ORPHA:3261
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly ORPHA:667
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia OMIM:130650
Immunodeficiency 31C
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:614162
Familial Mediterranean Fever
Lymphadenopathy, Pericarditis, Splenomegaly ORPHA:342
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Abnormality of the spleen ORPHA:228123
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100076
Behçet Disease
Endocarditis, Lymphadenopathy, Abnormal myocardium morphology, Pericarditis, Splenomegaly ORPHA:117
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Selective Igm Deficiency
Lymphadenopathy, Lymphadenitis ORPHA:331235
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256040
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Double outlet right ventricle with subpulmonary ventricula... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Cervical lymphadenopathy OMIM:617718
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Liver Disease, Severe Congenital
Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Subvalvul... OMIM:619991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Visceromegaly, Splenome... ORPHA:116
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Cardiomegaly ORPHA:3472
Williams Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiome... ORPHA:904
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:99827
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Sarcoidosis
Lymphadenopathy, Abnormal lymph node morphology, Hepatomegaly ORPHA:797
Igg4-Related Kidney Disease
Lymphadenopathy, Lymphadenitis, Pericarditis, Enlarged kidney ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Marburg Hemorrhagic Fever
Lymphadenopathy, Pericarditis ORPHA:99826
African Trypanosomiasis
Myocarditis, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Pericarditis, Splenomegaly ORPHA:3385
Blau Syndrome
Lymphadenopathy, Pericarditis, Splenomegaly ORPHA:90340
Leptospirosis
Lymphadenopathy, Pericarditis, Hepatomegaly ORPHA:509
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aor... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy ORPHA:51608
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus 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 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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