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Gene: Clasp1 MGI:1923957

Gene Summary

Name:

CLIP associating protein 1

Synonyms:

5730583A19Rik, CLASP1alpha, CLASP1, mCLASP1, 1700030C23Rik, B130045P17Rik

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	Allele	Zyg	Life Stage	P Value
hyperactivity	Clasp1^em1(IMPC)Mbp	HET	Early adult	1.13×10^-05
enlarged spleen	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal testis morphology	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
small heart	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
blind uterus	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged liver	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
absent seminal vesicle	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, complete penetrance	Clasp1^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Clasp1^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
hydrometra	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged seminal vesicle	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged epididymis	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged lymph nodes	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00

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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 Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Clasp1 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.

Human diseases associated with Clasp1 (0 diseases)
Human diseases predicted to be associated with Clasp1 (566 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clasp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Splenomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated hepatic transaminase	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Schizophrenia 15	Hyperactivity	OMIM:613950
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia	ORPHA:46532
Hemochromatosis, Type 2B	Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transamina...	OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevated circulating a...	OMIM:619874
Hemoglobin H Disease	HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly	OMIM:613978
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Endocardial ...	OMIM:607685
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia	OMIM:312500
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Tyrosinemia Type 1	Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly	ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Spermatogenic Failure, X-Linked, 2	Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility	OMIM:309120
Burkitt Lymphoma	Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology, Abnormality o...	ORPHA:543
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Splenomegaly	OMIM:614480
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre...	OMIM:603902
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly	OMIM:618852
Hemochromatosis, Type 2A	Cardiomyopathy, Hepatomegaly, Cirrhosis, Splenomegaly, Azoospermia, Dilated cardiomyopathy, Hypog...	OMIM:602390
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel...	OMIM:133180
Hyperbilirubinemia, Shunt, Primary	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ...	OMIM:237800
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:269600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Splenomegaly, Fetal ascites	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci...	OMIM:620010
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Testicular Regression Syndrome	Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit...	ORPHA:983
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo...	OMIM:602450
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:608540
Immunodeficiency 42	Hypoplasia of the thymus, Hepatomegaly, Splenomegaly	OMIM:616622
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase	OMIM:617068
Congenital Bile Acid Synthesis Defect Type 1	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h...	ORPHA:79301
Mast Cell Sarcoma	Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevated circulating a...	OMIM:605911
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,...	OMIM:301045
Nephronophthisis 19	Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ...	OMIM:616217
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis	OMIM:610293
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular...	ORPHA:52901
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri...	OMIM:619658
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly	ORPHA:79238
Splenoportal Vascular Anomalies	Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegal...	OMIM:271500
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Hemochromatosis, Type 1	Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Elevated hepatic t...	OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 3	Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E...	OMIM:602347
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:619868
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Hemoglobin D Disease	Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co...	ORPHA:90039
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Portal ...	OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Azoospermia, ...	OMIM:615234
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno...	ORPHA:1916
Galactosemia Iii	Jaundice, Hepatomegaly, Splenomegaly	OMIM:230350
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricula...	OMIM:614876
Immunodeficiency 16	Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia	OMIM:615593
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi...	OMIM:619849
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia...	OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly...	OMIM:603552
Beta-Thalassemia	Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Splenomegaly, Hepatitis, Thrombocyt...	ORPHA:848
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Abnormality of the liver	ORPHA:1980
Cholestasis-Lymphedema Syndrome	Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Cirrho...	OMIM:214900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:231393
Mu-Heavy Chain Disease	Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:100024
Familial Partial Lipodystrophy, Köbberling Type	Pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79084
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly	OMIM:224100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega...	OMIM:616860
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Testicular atrophy	OMIM:613909
Alpha-Thalassemia	Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel...	ORPHA:846
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites	ORPHA:100025
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Desmoplastic Small Round Cell Tumor	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Anemia, Neoplasm of the pancreas, Hep...	ORPHA:83469
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Sclerosing Cholangitis, Neonatal	Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep...	OMIM:617394
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Isolated Splenogonadal Fusion	Testicular mass, Polysplenia, Ectopia of the spleen, Bilateral cryptorchidism, Increased circulat...	ORPHA:457083
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa...	OMIM:614470
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Jaundice, Hepatomegaly, Splenomegaly	ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio	Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Retinitis Pigmentosa 59	Cryptorchidism, Hepatomegaly, Micropenis, Elevated hepatic transaminase	OMIM:613861
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated hepatic transaminase, Abnormal lymph node morphology, Abnormality...	ORPHA:54251
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Trimethylaminuria	Neutropenia, Splenomegaly, Anemia	OMIM:602079
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Spleno...	ORPHA:93476
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopathy,...	ORPHA:858
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevated circulating a...	OMIM:615158
Anemia, Congenital Dyserythropoietic, Type Ib	Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E...	OMIM:615631
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly	OMIM:610539
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Thrombocytopenia, Abnormal vagina morphology, Ascites	ORPHA:2123
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia	ORPHA:228312
Cholesteryl Ester Storage Disease	Jaundice, Hepatomegaly, Cirrhosis, Hepatic failure, Splenomegaly	ORPHA:75234
Cholestasis-Lymphedema Syndrome	Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,...	ORPHA:1414
46,Xy Sex Reversal 11	Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Elevated circulating f...	OMIM:273250
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Ventricular septal defect, Clitoral hypertrophy, Atrial septal defect...	OMIM:606003
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:607616
Follicular Lymphoma	Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly	ORPHA:545
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypoplasia of penis, Ascites, Splenomegaly, Hypospadias	ORPHA:1046
Immunodeficiency 69	Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly	OMIM:618963
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia	OMIM:615010
Amyloidosis, Familial Visceral	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia	OMIM:613987
Leydig Cell Hypoplasia	Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter...	ORPHA:755
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno...	OMIM:617514
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Immunodeficiency 76	Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:619164
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche...	OMIM:615559
Glycogen Storage Disease Vi	Hepatomegaly, Elevated hepatic transaminase, Increased hepatic glycogen content	OMIM:232700
Portal Hypertension, Noncirrhotic, 2	Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm...	OMIM:619463
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly, Ventricular septal defect	OMIM:613730
Bile Acid Synthesis Defect, Congenital, 3	Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf...	OMIM:613812
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly, Cirrhosis	OMIM:613490
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Hepatomegaly, Restrictive cardiomyopathy, Portal vein hypoplasia, Portal arter...	OMIM:619433
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Hepatomegaly, Splenomegaly, Anemia	OMIM:618107
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Splenomegaly	OMIM:121300
Glycogen Storage Disease Ixc	Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In...	OMIM:613027
Morm Syndrome	Hyperactivity, Micropenis	ORPHA:75858
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Biliary Atresia, Extrahepatic	Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato...	OMIM:210500
Cystic Echinococcosis	Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He...	ORPHA:400
Cyanosis, Transient Neonatal	Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly...	OMIM:612840
46,Xy Sex Reversal 3	Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli...	OMIM:612965
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,...	OMIM:619375
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Pancytopenia, ...	OMIM:610333
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosi...	ORPHA:369
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ...	ORPHA:98848
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi...	OMIM:601847
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly	OMIM:613101
Schnitzler Syndrome	Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:37748
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ...	OMIM:308700
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a...	OMIM:618534
46,Xy Sex Reversal 10	Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G...	OMIM:616425
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Ambiguous genitalia, Enlarged kidney, Ventricular septal defect, Atrial s...	OMIM:618280
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:618495
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:240500
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Asplenia, Enlarged kidney, Cholestasis, Pulmonic stenosis, Hepatic fibros...	OMIM:615415
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl...	OMIM:266200
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly	ORPHA:163596
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ...	ORPHA:231222
Cholesteryl Ester Storage Disease	Hepatosplenomegaly, Acute hepatic failure, Leukopenia, Elevated circulating aspartate aminotransf...	OMIM:278000
Sea-Blue Histiocytosis	Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:158029
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Cholestasis,...	ORPHA:370
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath...	OMIM:300853
46,Xx Ovotesticular Difference Of Sex Development	Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic...	ORPHA:2138
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Acquired Idiopathic Sideroblastic Anemia	Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ...	ORPHA:75564
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon...	OMIM:308750
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:601859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly...	ORPHA:158057
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Hepatoportal Sclerosis	Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ...	ORPHA:64743
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Hyperactivity, Attention deficit ...	ORPHA:8
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy, Eosinophilia	ORPHA:482
Cholestasis, Progressive Familial Intrahepatic, 1	Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi...	OMIM:211600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ...	OMIM:235700
Meacham Syndrome	Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen...	ORPHA:3097
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Chronic hepatic fa...	ORPHA:465508
Dietary Iron Overload Disease	Peritonitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly,...	ORPHA:139507
Bile Acid Synthesis Defect, Congenital, 1	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Giant...	OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly	OMIM:300635
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hepatic failure,...	OMIM:235555
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo...	OMIM:616689
Lymphoproliferative Syndrome 2	Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni...	OMIM:615122
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Left ventricular hypertrophy, Elev...	OMIM:619048
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ...	OMIM:613673
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Ascites	OMIM:269920
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Atrial septal ...	OMIM:208540
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia	OMIM:615085
Glycogen Storage Disease Iii	Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Ventricular hypert...	OMIM:232400
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge...	OMIM:209950
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Pericarditis, Hepatomegaly, Splenomegaly	ORPHA:85414
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut...	OMIM:615387
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Myotonic Dystrophy 1	Dysphagia, Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti...	OMIM:613470
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase	OMIM:306000
Hepatic Veno-Occlusive Disease	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Ascites	ORPHA:890
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Splenomegaly	OMIM:620210
Congenital Pulmonary Lymphangiectasia	Pulmonic stenosis, Hepatomegaly, Chylopericardium, Splenomegaly, Ascites	ORPHA:2414
Klatskin Tumor	Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an...	ORPHA:251380
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Cryptorchidism, Micropenis, Ventricular septal defect, Hepatomegaly, Hepatic ...	ORPHA:1655
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Sickle Cell Disease	Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli...	OMIM:603903
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm...	OMIM:613011
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Griscelli Syndrome Type 2	Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Leishmaniasis	Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ...	ORPHA:507
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi...	ORPHA:168563
Hemoglobin E Disease	Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom...	ORPHA:2133
Harderoporphyria	Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
Neonatal Lupus Erythematosus	Aplastic anemia, Hemolytic anemia, Cholestasis, Abnormality of the liver, Anemia, Hepatomegaly, E...	ORPHA:398124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy...	ORPHA:766
Spherocytosis, Type 1	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly	OMIM:182900
Spherocytosis, Type 5	Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia...	ORPHA:276
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Elevated circulating aspartate aminotransfe...	OMIM:614034
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231000
Primary Lipodystrophy	Pancreatitis, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Splenomegaly	ORPHA:90970
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Hyperactivity, Decreased serum insulin-like gr...	ORPHA:85327
Graves Disease, Susceptibility To, 1	Graves disease, Goiter, Polyphagia, Hyperactivity, Abnormal abdomen morphology, Increased circula...	OMIM:275000
Budd-Chiari Syndrome	Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho...	ORPHA:131
Bile Acid Conjugation Defect 1	Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala...	OMIM:619232
Classic Hodgkin Lymphoma	Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly	ORPHA:391
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Complete Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal...	ORPHA:99429
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu...	ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic failure, Splenomegaly	OMIM:613489
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden...	OMIM:308240
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Fulminant hepatitis, Hepatomegaly, Elevated hepatic transaminase, Hepatic failure	OMIM:618549
Adams-Oliver Syndrome 6	Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus, Splenomegaly	OMIM:616589
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Elevated h...	OMIM:618641
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Adult-Onset Still Disease	Myocarditis, Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly...	ORPHA:829
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Cryptorchidism, Hepatomegaly, Hypertrophic cardiomyopathy, A...	ORPHA:1194
Hemochromatosis, Type 4	Anemia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Hepatic steatosis	OMIM:606069
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism	OMIM:300624
Neuraminidase Deficiency	Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splen...	OMIM:256550
Wolman Disease	Bone-marrow foam cells, Anemia, Hepatomegaly, Hepatic failure, Splenomegaly, Ascites	ORPHA:75233
Pleural Mesothelioma	Lymphadenopathy, Hepatomegaly	ORPHA:50251
Cholestasis, Progressive Familial Intrahepatic, 8	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri...	OMIM:619662
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff...	OMIM:612714
Niemann-Pick Disease, Type A	Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Elevated c...	OMIM:257200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated hepatic transaminase, Dilated cardiomyopathy, Cardiomegaly, Macrovesicular...	OMIM:600649
Propionic Acidemia	Cardiomyopathy, Hepatomegaly	ORPHA:35
Congenital Rubella Syndrome	Jaundice, Anemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Thrombocytopenia...	ORPHA:290
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ...	OMIM:612964
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, S...	ORPHA:2348
Galactosemia I	Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:230400
Amed Syndrome, Digenic	Leukopenia, Anemia, Bone marrow hypocellularity, Hypoplasia of the uterus, Thrombocytopenia, Acut...	OMIM:619151
Deafness-Lymphedema-Leukemia Syndrome	Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto...	ORPHA:3226
Partial Androgen Insensitivity Syndrome	Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit...	ORPHA:90797
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Caroli Disease	Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevat...	ORPHA:53035
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the...	OMIM:614841
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por...	OMIM:607626
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn...	OMIM:150550
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Jaundice, Hepatomegaly, Intrahepatic cholestasis	OMIM:605479
Primary Myelofibrosis	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype...	ORPHA:824
Pparg-Related Familial Partial Lipodystrophy	Polycystic ovaries, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertrophic cardio...	ORPHA:79083
Testicular Agenesis	Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,...	ORPHA:325124
Griscelli Syndrome	Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa...	ORPHA:381
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:252920
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Macrocephaly/Autism Syndrome	Penile freckling, Hepatomegaly, Lymphopenia, Hydrocele testis, Splenomegaly	OMIM:605309
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt...	OMIM:618805
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Overhydrated Hereditary Stomatocytosis	Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased...	OMIM:185000
Wilson Disease	Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami...	ORPHA:905
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au...	OMIM:603909
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegal...	OMIM:300400
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Anemia, Cholestasis, Polycystic ovarie...	ORPHA:264580
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Lig4 Syndrome	Cryptorchidism, Leukocytosis, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, Pancytopenia, A...	ORPHA:99812
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenome...	OMIM:615630
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo...	OMIM:301078
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism, Anemia, Pure red cell aplasia, Erythroid hypoplasia	OMIM:618165
Parenteral Nutrition-Associated Cholestasis	Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert...	ORPHA:567983
Macrophage Activation Syndrome	Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated...	ORPHA:158061
Triploidy	Cryptorchidism, Ambiguous genitalia, Hepatomegaly, Hypoplasia of penis, Abnormality of the pancre...	ORPHA:3376
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypertension, ...	ORPHA:367
Omenn Syndrome	Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy...	OMIM:603554
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,...	ORPHA:100026
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne...	OMIM:226990
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly	OMIM:619183
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Cor pulm...	OMIM:300755
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp...	OMIM:614837
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Anemia, Cholestasis, Hepatomegaly, Perimembranous ventricular septal defect, Thro...	OMIM:608104
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevat...	OMIM:615381
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice, Hepatomegaly	OMIM:243300
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:3386
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Hepatomegaly, Abnormality of the liver	ORPHA:234
Spherocytosis, Type 4	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612653
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Overhydrated Hereditary Stomatocytosis	Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular...	ORPHA:3203
Wolfram Syndrome 1	Testicular atrophy, Megaloblastic anemia, Diabetes mellitus, Diabetes insipidus, Dysphagia, Sider...	OMIM:222300
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Polycystic ovaries, Precocious puberty in females, Hepatomegaly, Cirrhosis,...	ORPHA:528
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Fetal Gaucher Disease	Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Hereditary Spherocytosis	Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he...	ORPHA:822
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis	OMIM:266810
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly	ORPHA:1759
Isolated Biliary Atresia	Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal...	ORPHA:30391
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Hepatomegaly, Biventricul...	OMIM:619424
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci...	OMIM:618528
Galactokinase Deficiency	Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism	ORPHA:79237
Gaucher Disease Type 1	Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Hypersplenism, Thrombocyt...	ORPHA:77259
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Pancreatic hypoplasia, Micropenis, Cervical lymphadenopathy, Ventricular sept...	OMIM:602782
Vaginal Atresia	Uterus didelphys, Cervicitis, Abdominal mass, Imperforate hymen, Transverse vaginal septum, Vagin...	ORPHA:65681
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Thyroid lympha...	OMIM:235255
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia	OMIM:617441
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:618117
Spherocytosis, Type 2	Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly	OMIM:616649
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:614582
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Jaundice, Cryptorchidism, Clitoral hypertrophy, Hepatomegaly, Abnormal ...	OMIM:214110
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
46,Xy Sex Reversal 7	Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ...	OMIM:233420
Anemia, Congenital Dyserythropoietic, Type Ia	Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau...	OMIM:224120
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy...	OMIM:613179
Gaucher Disease, Type Iiic	Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos...	OMIM:231005
Sézary Syndrome	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Cidec-Related Familial Partial Lipodystrophy	Pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435651
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Meckel Syndrome, Type 3	Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate	OMIM:607361
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated hepatic transaminase, Periportal fibrosis, Depletion of mitochon...	OMIM:251880
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn...	ORPHA:521
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hepatomegaly, Micropenis, Hydrocele testis	OMIM:618810
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Hyperactivity, Diabetes mellitus, Congenital hypothyroidism, Hypospadias	OMIM:614613
Caroli Syndrome	Cholangitis, Jaundice, Leukocytosis, Liver abscess, Leukopenia, Intrahepatic cholestasis, Pancrea...	ORPHA:480520
Perrault Syndrome 3	Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Hypergonadotro...	OMIM:614129
Gaucher Disease, Type I	Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Aortic valve stenosis, Splen...	OMIM:230800
Cryoglobulinemic Vasculitis	Abnormality of the liver, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Viral hepatitis	ORPHA:91138
Cryohydrocytosis	Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Adams-Oliver Syndrome 5	Pulmonic stenosis, Right ventricular hypertrophy, Right atrial enlargement, Hypersplenism, Portal...	OMIM:616028
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope...	ORPHA:231154
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:617690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Hepatocellular adenoma, Anemia, Polycystic ovaries, Hepatic fibrosis, H...	ORPHA:79240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa...	OMIM:616100
Hereditary Amyloidosis With Primary Renal Involvement	Hepatosplenomegaly, Hypogonadism, Anemia, Hepatomegaly, Abnormal lymph node morphology, Primary t...	ORPHA:85450
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:255120
Felty Syndrome	Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen...	ORPHA:47612
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the liver, Hepatomegaly, Lymphadenopathy, Lymphocytos...	ORPHA:79456
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of...	OMIM:619802
Pediatric-Onset Graves Disease	Graves disease, Goiter, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Polyphagi...	ORPHA:525731
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Pulmonic stenosis, Ventricular septal defect, Multilobulated ...	OMIM:601186
Beta-Thalassemia Major	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Hypopituitarism, Ext...	ORPHA:231214
Aarskog-Scott Syndrome	Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle...	OMIM:305400
Dehydrated Hereditary Stomatocytosis	Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me...	ORPHA:3202
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Leukocytosis, Anemia, Cholestasis, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Lymphadenitis,...	OMIM:615895
Dominant Beta-Thalassemia	Hepatosplenomegaly, Hepatocellular carcinoma, Anisocytosis, Jaundice, Hypopituitarism, Chronic he...	ORPHA:231226
Stankiewicz-Isidor Syndrome	Cryptorchidism, Shawl scrotum, Micropenis, Hyperactivity, Pineal cyst, Hypospadias	OMIM:617516
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Ventricular septal d...	ORPHA:860
Erythrocytosis, Familial, 1	Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass	OMIM:133100
Omenn Syndrome	Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Eosinophilia, Lymphadenopathy...	ORPHA:39041
8P11.2 Deletion Syndrome	Cryptorchidism, Hypogonadism, Hemolytic anemia, Atrial septal defect, Hypoplasia of penis, Spleno...	ORPHA:251066
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni...	OMIM:618935
Mucopolysaccharidosis, Type Iiia	Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly	OMIM:252900
Juvenile Idiopathic Arthritis	Mediastinal lymphadenopathy, Pericardial effusion, Hepatomegaly, Splenomegaly	ORPHA:92
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus	OMIM:617442
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Lipe-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology	ORPHA:435660
Hereditary Elliptocytosis	Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho...	ORPHA:288
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:300842
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Cirrhosis, Splenomegaly, Hepatitis, Thrombocyt...	OMIM:308230
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:612310
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:619665
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:612387
46,Xx Sex Reversal 2	Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia...	OMIM:278850
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:619203
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Micropenis, Hemolytic anemia, Left ventricular hypertrophy, Anemia, Hepatic f...	OMIM:619487
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu...	ORPHA:331206
Oculoskeletodental Syndrome	Cryptorchidism, Hepatomegaly, Splenomegaly	OMIM:618440
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Pancre...	OMIM:263200
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Left ventricular hypertrophy, Atrial septal defe...	ORPHA:79330
Autoimmune Hepatitis	Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ...	ORPHA:2137
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly	OMIM:207750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ...	ORPHA:79124
Q Fever	Hepatosplenomegaly, Myocarditis, Endocarditis, Abnormality of the liver, Anemia, Hepatomegaly, El...	ORPHA:781
Immunodeficiency 47	Leukopenia, Normocytic anemia, Elevated circulating aspartate aminotransferase concentration, Cho...	OMIM:300972
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc...	OMIM:300908
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepatic tra...	ORPHA:540
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatosplenomegaly, Hypoplasia of the thymus, Secundum atrial septal defect, Cryptorchidism, Inte...	OMIM:612541
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Elevated circulating luteinizing hormone level, Micropenis, Ambig...	ORPHA:90793
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly	ORPHA:169090
Glycogen Storage Disease Xii	Jaundice, Normocytic anemia, Anemia, Elevated circulating alanine aminotransferase concentration,...	OMIM:611881
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatomegaly, Cirrhosis, Lymphangiectasis, Hepatic failure	OMIM:602579
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Polycystic ovaries, Cardiomyopathy, Hepatomegaly, Elevated hepatic transami...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Polycystic ovaries, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis,...	OMIM:269700
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Ventricular hypertrophy, Right atrial enlargement, ...	OMIM:115197
Acquired Generalized Lipodystrophy	Polycystic ovaries, Cardiomyopathy, Hepatomegaly, Cirrhosis, Acute pancreatitis, Hepatic steatosis	ORPHA:79086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Anemia, Ventricular septal defect, Hepatomegaly, Prolonged neonatal ja...	OMIM:619418
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatome...	OMIM:214950
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri...	ORPHA:555874
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Polycythemia, Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papi...	OMIM:193300
Chronic Granulomatous Disease	Liver abscess, Abnormality of neutrophils, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:379
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Fatal liver failure in infancy, Hepatomegaly, Prolonged neonatal jaundice...	OMIM:257220
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Abnormal lymphatic vesse...	ORPHA:464329
Lumbar Syndrome	Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc...	ORPHA:83628
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, E...	ORPHA:79303
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Hepatomegaly, Lymphopenia, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopat...	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepati...	OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop...	OMIM:233710
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology, El...	ORPHA:100080
Citrullinemia Type Ii	Hepatocellular carcinoma, Abnormal eating behavior, Hyperactivity, Restlessness, Pancreatitis, He...	ORPHA:247585
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Familial Mediterranean Fever	Peritonitis, Leukocytosis, Orchitis, Hepatomegaly, Neutrophilia, Pericarditis, Splenomegaly	OMIM:249100
Immunodeficiency 36 With Lymphoproliferation	Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro...	OMIM:616005
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia	OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop...	OMIM:233690
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic left heart, Asplenia, Enlarged kidney, Ventricular septal defect, Atrial septal defec...	OMIM:306955
Mixed Connective Tissue Disease	Myocarditis, Leukopenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenop...	ORPHA:809
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome...	ORPHA:86843
Proteus-Like Syndrome	Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly, Thymus hyperplasia	ORPHA:2969
Meckel Syndrome 14	Single ventricle, Hepatic fibrosis, Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Abnorm...	ORPHA:168558
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Syndromic Diarrhea	Hypoplasia of the thymus, Abnormality of the liver, Ventricular septal defect, Atrial septal defe...	ORPHA:84064
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic hypoplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Elevated circulati...	OMIM:610199
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Abnorm...	ORPHA:289548
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Trichohepatoenteric Syndrome 1	Jaundice, Pulmonic stenosis, Ventricular septal defect, Cholestasis, Tetralogy of Fallot, Hepatic...	OMIM:222470
Chediak-Higashi Syndrome	Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired...	OMIM:214500
Primary Sclerosing Cholangitis	Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa...	ORPHA:171
Cirrhotic Cardiomyopathy	Jaundice, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Cirrhosis, Right a...	ORPHA:57777
X-Linked Lymphoproliferative Disease	Myocarditis, Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Decreased l...	ORPHA:2442
Hardikar Syndrome

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Gene: Clasp1 MGI:1923957

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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MicroCT E18.5

Human diseases caused by Clasp1 mutations