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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal lymph node morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
embryonic lethality prior to organogenesis Adamts9tm1b(KOMP)Wtsi HOM   E9.5 0.00
preweaning lethality, incomplete penetrance Adamts9tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal eye morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal heart morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
enlarged heart Adamts9tm1b(KOMP)Wtsi HET Early adult 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 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 0.68% (3 of 443)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cecum 4.84% (14 of 289)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
chest bone Unavailable
colon 13.89% (15 of 108)
diaphragm 0.0%
duodenum 3.06% (3 of 98)
epididymis 13.68% (16 of 117)
esophagus 1.63% (5 of 307)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.96% (1 of 104)
heart 0.0%
hindlimb 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
ileum 16.19% (17 of 105)
jejunum 8.82% (9 of 102)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.42% (1 of 240)
midbrain 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
stomach pyloric region 0.0%
striatum 0.46% (2 of 438)
sublingual gland 0.0%
submandibular gland 0.96% (1 of 104)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
tongue 5.49% (5 of 91)
trachea 0.46% (2 of 433)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.44% (2 of 459)
vagina 0.0%
vas deferens 4.66% (13 of 279)
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

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

3 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
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
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
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... ORPHA:241
Ethanolaminosis
Cardiomegaly OMIM:227150
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... 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
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
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
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:66661
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Heteroch... OMIM:193510
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Cardiomegaly ORPHA:858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Mu-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopat... OMIM:615559
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Hepatomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Roifman Syndrome
Hepatomegaly, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy OMIM:616651
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Pseudo-Torch Syndrome 3
Lymphadenitis, Cardiomegaly OMIM:618886
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619375
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:614470
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy ORPHA:353298
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Hepatomegaly, Asplenia OMIM:614034
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:615122
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly OMIM:617022
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Polysple... OMIM:306955
Tularemia
Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal a... ORPHA:3392
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603554
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79477
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:601859
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3226
Adult-Onset Still Disease
Hepatomegaly, Splenomegaly, Myocarditis, Generalized lymphadenopathy, Bone marrow hypocellularity... ORPHA:829
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy ORPHA:83469
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion ORPHA:36412
Lymphoproliferative Syndrome 1
Lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly OMIM:613011
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Lymphadenitis ORPHA:911
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Cervical lymphadenopathy, He... OMIM:602782
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lympha... OMIM:603909
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:618935
Felty Syndrome
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Pericarditis, Lymphadenopathy ORPHA:47612
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:257200
Legionnaires Disease
Splenomegaly, Endocarditis, Myocarditis, Bone marrow hypocellularity, Pericarditis, Lymphadenopathy ORPHA:549
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:381
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Lymph node hypopl... OMIM:602450
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619644
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalized lymp... ORPHA:160
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Pericarditis, Lymphadenopathy ORPHA:809
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:824
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Lymphadenopathy, Cardiomyopathy OMIM:615895
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy, Hepatomegaly ORPHA:79456
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:301078
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis, Myocarditis, Abnormal heart valve m... ORPHA:781
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:1451
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology ORPHA:100080
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:619802
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Abnormality of the lymph nodes ORPHA:85450
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy, Pericardial effusion ORPHA:199241
Nephroblastoma
Lymphadenopathy ORPHA:654
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... ORPHA:3384
Acute Interstitial Pneumonia
Lymphadenopathy, Pericardial effusion ORPHA:79126
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
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, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Tangier Disease
Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Hepatosplenomegaly, Orange d... ORPHA:31150
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly ORPHA:99812
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
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:540
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Abnormal aor... ORPHA:581
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:233710
Kikuchi-Fujimoto Disease
Hepatomegaly, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Myocarditis... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Myocarditis ORPHA:139402
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Pericardial effusion ORPHA:93552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Poems Syndrome
Lymphadenopathy, Visceromegaly, Pericardial effusion ORPHA:2905
Mevalonic Aciduria
Fluctuating hepatomegaly, Lymphadenopathy, Fluctuating splenomegaly, Hepatosplenomegaly OMIM:610377
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly 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
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:267700
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:260920
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Splenomegaly, Accessory spleen, Ventricular septal defect, Polysplenia, Lymphadenop... OMIM:619418
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center ORPHA:79124
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Lymphadenopathy, Abnormal myocardium morphology, Splenomegaly ORPHA:32960
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Chediak-Higashi Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:214500
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:33226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dilated cardiomyopathy, Bone marrow hypocellulari... OMIM:615688
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney ORPHA:168569
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:306400
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Chylopericardium, Abnormality of the lymphatic system, Lymphadeno... ORPHA:538
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy ORPHA:100077
Lymphatic Filariasis
Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Hennekam Syndrome
Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Pericardial effusion ORPHA:2136
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Myocarditis, Bone m... ORPHA:2442
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... OMIM:300855
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... 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
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:167
Brucellosis
Hepatomegaly, Splenomegaly, Endocarditis, Abnormal aortic valve morphology, Myocarditis, Pericard... ORPHA:1304
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, L... ORPHA:3261
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:667
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Familial Mediterranean Fever
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:342
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Duodenal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy ORPHA:100076
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Behçet Disease
Splenomegaly, Endocarditis, Abnormal myocardium morphology, Pericarditis, Lymphadenopathy ORPHA:117
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Liver Disease, Severe Congenital
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116
Igg4-Related Kidney Disease
Pericarditis, Lymphadenopathy, Lymphadenitis, Enlarged kidney ORPHA:449395
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Pericardial effusion ORPHA:99827
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Sarcoidosis
Lymphadenopathy, Hepatomegaly, Abnormality of the lymph nodes ORPHA:797
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Myocarditis, Pericarditis, Lymphadenopathy ORPHA:3385
Marburg Hemorrhagic Fever
Pericarditis, Lymphadenopathy ORPHA:99826
Blau Syndrome
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:90340
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Leptospirosis
Pericarditis, Lymphadenopathy, Hepatomegaly ORPHA:509
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly 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
Neoplasm of the thymus, Abnormality of the lymph nodes 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.

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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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