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Gene: Trp53inp2 MGI:1915978

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Gene Summary

Name:
transformation related protein 53 inducible nuclear protein 2
Synonyms:
Tp53inp2,  1110029F20Rik

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
abnormal skin morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged liver Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
cataract Trp53inp2em1(IMPC)Mbp HOM   Early adult 6.04×10-06
enlarged testis Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Trp53inp2em1(IMPC)Mbp HOM Early adult 6.04×10-05
small kidney Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Trp53inp2em1(IMPC)Mbp HOM   Early adult 6.50×10-06
abnormal liver morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/ hair morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 9.31×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Trp53inp2 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 Trp53inp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... ORPHA:3000
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Macroorchidism, Sparse eyelashes ORPHA:139474
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Partington Syndrome
Macroorchidism ORPHA:94083
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys OMIM:300143
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries ORPHA:284180
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract OMIM:300055
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... ORPHA:180229
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites ORPHA:100025
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati... ORPHA:3156
Fragile X Syndrome
Macroorchidism ORPHA:908
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circulating aspartate aminotransfer... OMIM:615559
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Hypospadias, Sparse eyebrow, Macroorchidism, Alopecia of scalp, Iris coloboma OMIM:618874
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Abnormalit... ORPHA:261318
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J... ORPHA:858
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis OMIM:603552
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Abnormality of the lym... ORPHA:54251
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ... ORPHA:2377
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Hepatitis, Lymphadenopathy ORPHA:444463
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... ORPHA:85450
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegal... OMIM:235200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... OMIM:602450
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria OMIM:204000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis OMIM:613861
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... OMIM:614034
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Premature grayin... ORPHA:79477
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Jaundice, W... ORPHA:381
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Alopecia, Lymphadenopathy ORPHA:2584
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Generalized hirsutism ORPHA:93476
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Galactosemia I
Hepatomegaly, Cataract, Premature ovarian insufficiency, Elevated circulating aspartate aminotran... OMIM:230400
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Hirsutism OMIM:612526
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Impotence, Cirrhosis, Hepatic steatosis OMIM:606069
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy OMIM:609981
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Enlarged kidney, Hepatomegaly OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Nephroblastoma
Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Galactokinase Deficiency
Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosp... ORPHA:79237
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, External genital hypoplasi... ORPHA:1867
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:607594
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Jaundice, Hepatomegaly OMIM:237800
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... ORPHA:90674
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency 7
Hepatomegaly, Splenomegaly, Patchy alopecia, Lymphadenopathy OMIM:615387
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Low anterior hairline, Lymphadenopathy ORPHA:99812
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Ovarian neopla... ORPHA:2221
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Malformation of the ... OMIM:208540
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites OMIM:615122
Sézary Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy ORPHA:3162
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma OMIM:601794
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian se... ORPHA:1359
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... OMIM:257200
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of secondary sexual hair, Abnormality of the testis size, Pre... ORPHA:649929
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Precocious puberty, Low anterior hairline, Unilateral renal hypoplasia, Long eyelashe... OMIM:619950
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Micropenis OMIM:618810
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Hypogonadism, Elevated hepatic iron concentration OMIM:615234
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:69077
Roifman Syndrome
Hepatomegaly, Splenomegaly, Prominent eyelashes, Lymphadenopathy OMIM:616651
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Triploidy
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi... ORPHA:3376
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Cataract, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
H Syndrome
Abnormal eyebrow morphology, Alopecia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Azoosperm... ORPHA:168569
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Low anterior hairline, Hypercalciuria, Low posterior ... OMIM:618440
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Aplasia/Hypoplasia of ... ORPHA:39041
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Cataract, Fluctuating splenomegaly, Fluctuating... OMIM:610377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic ki... OMIM:614376
Roifman Syndrome
Prominent eyelashes, Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly ORPHA:353298
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Leishmaniasis
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Lymphadenopathy ORPHA:507
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, Hepatic failure OMIM:308240
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... OMIM:618892
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse h... OMIM:252920
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... OMIM:603909
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep... ORPHA:2035
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Jaundice, Absent tonsils, Hepatomegaly ORPHA:276
Cinca Syndrome
Papilledema, Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lym... OMIM:602579
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Splenomegaly, Pancreatic lymphangiectasis, Cryp... ORPHA:1655
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Cholestasis, Lymphadeno... OMIM:615895
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Conjunc... ORPHA:36412
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair OMIM:605309
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... ORPHA:1333
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Aspartylglucosaminuria, Cataract OMIM:208400
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Aspartylglucosaminuria
Macroorchidism, Splenomegaly, Aspartylglucosaminuria, Hepatomegaly ORPHA:93
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy ORPHA:79456
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... ORPHA:97289
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver ORPHA:234
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Splenomegaly, Microvesicular hepatic steatosis, ... OMIM:619418
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosp... OMIM:618935
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus OMIM:603554
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Hepatitis, Hemoglobinuria, Cholelithi... OMIM:194380
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Cholestatic... ORPHA:540
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... ORPHA:131
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... OMIM:618641
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy, Hyper... OMIM:247410
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:169090
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia OMIM:142680
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Subcapsular cataract, Hepatic steatosis OMIM:275630
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Farber Disease
Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ... ORPHA:333
Chops Syndrome
Curly hair, Cataract, Thick hair, Splenomegaly, Synophrys, Cryptorchidism, Optic atrophy, Horsesh... OMIM:616368
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Hepatitis, C... OMIM:308230
Cinca Syndrome
Hepatomegaly, Splenomegaly, Pseudopapilledema, Lymphadenopathy ORPHA:1451
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Mixed Connective Tissue Disease
Hepatomegaly, Alopecia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjunc... ORPHA:809
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:264580
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... ORPHA:564
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... OMIM:610199
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... ORPHA:79303
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Absence of lymph node germinal ... ORPHA:79124
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ... ORPHA:549
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Hepatitis... ORPHA:829
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic... OMIM:269200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Alopecia of scalp, Decreased testicular size OMIM:201100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:613011
Aggressive Systemic Mastocytosis
Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Decreased liver function... ORPHA:98850
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Hema... OMIM:603903
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Silver-gray hair, Ocular albinism... OMIM:214500
Scheie Syndrome
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly ORPHA:93474
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Hypopituitarism, Nail dystrophy, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Alopecia, Hepatitis, Lymphadenopathy OMIM:304790
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Alopecia, Cataract, Abnormal eyebrow morphology, Abnormal... ORPHA:1775
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, Conjunctivitis, Hepatocellular carcin... OMIM:300755
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100026
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Felty Syndrome
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Poems Syndrome
Papilledema, Leukonychia, Lymphadenopathy, Hypogonadism, Erectile dysfunction, Ascites, Viscerome... ORPHA:2905
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Familial Mediterranean Fever
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc... ORPHA:342
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatitis, Lymphadenop... ORPHA:139402
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:617591
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Cockayne Syndrome Type 3
Dry hair, Microcornea, Premature graying of hair, Lentiglobus, Retinal degeneration, Hepatomegaly... ORPHA:90324
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy ORPHA:2686
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Pediatric Systemic Lupus Erythematosus
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syn... ORPHA:93552
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Splenomegaly, Renal hypoplasia, Abnormality... ORPHA:84064
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Hyper-Igd Syndrome
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... OMIM:260920
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplen... OMIM:603553
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Hepatosple... ORPHA:781
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Cholestasis, Lymphadenopathy, Conjunctivitis ORPHA:293173
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly, Patchy alopecia, Alopecia universalis OMIM:606367
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... ORPHA:449395
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:436159
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Waldenström Macroglobulinemia
Hepatomegaly, Renal insufficiency, Splenomegaly, Retinal hemorrhage, Lymphadenopathy ORPHA:33226
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Cor... OMIM:263700
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb... OMIM:118450
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Macular degeneration, Ves... ORPHA:1571
Tyrosinemia, Type I
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenome... OMIM:276700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy OMIM:267700
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Splenomegaly,... ORPHA:50918
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Renal ins... ORPHA:171
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Sarcoidosis
Hepatomegaly, Alopecia, Cataract, Renal insufficiency, Portal hypertension, Abnormal reproductive... ORPHA:797
Dyskeratosis Congenita, X-Linked
Alopecia, Cataract, Sparse eyelashes, Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, O... OMIM:305000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... ORPHA:39812
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... ORPHA:699
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Urina... ORPHA:556
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormality of the lymphatic system, Optic atrophy, Abnormal morphology o... ORPHA:538
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morpho... ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Clitoral hypertrophy, Decreased ... OMIM:608594
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Elevated circulating growth... ORPHA:97287
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... ORPHA:31150
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Clitoral hypertrophy, Decreased ... OMIM:269700
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Conjunctivitis, Lymphadenopathy OMIM:614700
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Ascites OMIM:306400
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hypopigmentation of hair, Spl... ORPHA:167
Acute Promyelocytic Leukemia
Hematuria, Metrorrhagia, Lymphadenopathy ORPHA:520
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Chronic noninfectious lymphad... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Optic atrophy, Ly... OMIM:615688
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Abnormality of the spleen, Mediastinal lymphadeno... ORPHA:228123
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Splenomegaly, Jaundice, Hepatomegaly OMIM:185000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Splenomegaly, Hepatitis, Lymphadenopathy, Tubulointersti... ORPHA:37042
Hennekam Syndrome
Sparse axillary hair, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,... ORPHA:2136
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Hepatomegaly OMIM:620233
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Conjunctivitis ORPHA:32960
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Elevated urinary catecholamine level, Prominent corneal nerve fibers, Thyroid ... ORPHA:653
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Proteinuria, Orchitis, Splenomegaly, Jaundice, Epididymitis, Re... ORPHA:99827
Brucellosis
Hepatomegaly, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Orchitis, Epididymi... ORPHA:1304
Igg4-Related Ophthalmic Disease
Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituitary... ORPHA:449563
Common Variable Immunodeficiency
Elevated hepatic transaminase, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:1572
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Hepatic failure, Hydron... ORPHA:100078
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98849
Behçet Disease
Renal insufficiency, Cataract, Orchitis, Splenomegaly, Lymphadenopathy, Keratoconjunctivitis sicc... ORPHA:117
Leptospirosis
Hepatomegaly, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Retinal hemorrhage, Lymph... ORPHA:509
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Sparse axillary hair, Cardiomegaly, Splenomegaly, Ep... OMIM:256040
T-Cell Immunodeficiency With Thymic Aplasia
Atypical or prolonged hepatitis, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Carney Triad
Mediastinal lymphadenopathy, Ascites, Pheochromocytoma, Lymphadenopathy ORPHA:139411
Blau Syndrome
Cataract, Keratitis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality o... ORPHA:90340
African Trypanosomiasis
Hepatomegaly, Alopecia, Papilledema, Renal insufficiency, Urinary incontinence, Abnormality of th... ORPHA:3385
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury ORPHA:29073
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Optic nerve compression ORPHA:667
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy ORPHA:100075
Neuroocular Syndrome
Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eyebrow, Brushfiel... OMIM:619539
Immunodeficiency 31C
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:614162
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Primary Sjögren Syndrome
Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Biliary cirrhosis, Lymphadenop... ORPHA:289390
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Ovarian neopl... ORPHA:100079
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis,... OMIM:219700
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediastinal lymphadeno... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplas... ORPHA:99889
Kawasaki Disease
Abnormality of nail color, Proteinuria, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile py... ORPHA:2331
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Johanson-Blizzard Syndrome
Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotran... OMIM:243800
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Selective Igm Deficiency
Keratitis, Lymphadenitis, Lymphadenopathy ORPHA:331235
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Orchitis, Jaundice, Lymphadenopathy, Conjunct... ORPHA:99826
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria ORPHA:536
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphadenopathy, Anoperineal fistula OMIM:619381
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Plague
Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Conjunctival hyperemia... ORPHA:707
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis OMIM:157170

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 Trp53inp2

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 Trp53inp2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Regulation of NGF Signaling by an Axonal Untranslated mRNA. Neuron (March 2019) Trp53inp2tm1a(KOMP)Mbp PMC6509357
TMPRSS2 Contributes to Virus Spread and Immunopathology in the Airways of Murine Models after Coronavirus Infection. Journal of virology (March 2019) Trp53inp2tm1a(KOMP)Mbp PMC6401451

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
Trp53inp2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Trp53inp2em1(IMPC)Mbp Exon Deletion Mice
Trp53inp2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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