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Gene: Hcls1 MGI:104568

Gene Summary

Name:

hematopoietic cell specific Lyn substrate 1

Synonyms:

HS1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased kidney weight	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.22×10^-05
small testis	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
absent optic nerve	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Hcls1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Hcls1 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 Hcls1 (0 diseases)
Human diseases predicted to be associated with Hcls1 (552 diseases)

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

The table below shows human diseases predicted to be associated to Hcls1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul...	OMIM:619902
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants...	OMIM:120200
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit...	OMIM:206900
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
14Q22Q23 Microdeletion Syndrome	Small scrotum, Renal hypoplasia, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Adrenal hypop...	ORPHA:264200
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Combined Saposin Deficiency	Hepatomegaly, Optic atrophy, Splenomegaly	OMIM:611721
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr...	ORPHA:85284
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph...	ORPHA:277
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Anophthalmia, Ambiguous genitalia, Microphthalmia, Polycystic kidney dysp...	OMIM:613885
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal...	ORPHA:85445
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci...	ORPHA:90301
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp...	ORPHA:65288
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone dystrophy, R...	OMIM:602271
Hemochromatosis, Type 2B	Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Secondary amenorrhea	OMIM:613313
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Septooptic Dysplasia	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary ...	OMIM:182230
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, F...	OMIM:615085
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Wolman Disease	Adrenal calcification, Hepatomegaly, Splenomegaly	OMIM:620151
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hemochromatosis, Type 1	Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hepa...	OMIM:235200
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, In...	OMIM:602390
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Hyperlysinemia, Type I	Hyperlysinuria, Optic nerve hypoplasia, Cystinuria, Anemia, Ornithinuria, Argininuria, Homocitrul...	OMIM:238700
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Retinal dy...	OMIM:610125
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system...	ORPHA:464329
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia	ORPHA:137634
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepa...	OMIM:607616
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Chorioretinal hypopig...	OMIM:617303
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Cryptorchidism, 3-Methylglutaconic aciduria, Peripheral axonal neuropathy, Delayed...	ORPHA:496790
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly	OMIM:608540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Hypochromia, Poikilocytosi...	OMIM:615234
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha...	OMIM:617914
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ...	OMIM:611490
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:609053
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hydroureter, Sideroblastic anemia, Hydronephrosis, Hypothy...	OMIM:222300
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t...	OMIM:308700
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism...	OMIM:308750
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Optic Atrophy 11	Optic atrophy, Cherry red spot of the macula, Facial diplegia, Splenomegaly, Decreased sensory ne...	OMIM:617302
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
H Syndrome	Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcyt...	ORPHA:168569
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Trichothiodystrophy 5, Nonphotosensitive	Panhypopituitarism, Decreased testicular size, Micropenis, Retinal dystrophy, Optic nerve hypoplasia	OMIM:300953
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ...	ORPHA:397596
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, Diabetes i...	ORPHA:3157
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy	OMIM:614979
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi...	OMIM:603903
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m...	OMIM:612526
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Delayed puberty, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis...	ORPHA:251004
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia	OMIM:608184
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, ...	OMIM:301056
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenocortical cytome...	OMIM:130650
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytop...	ORPHA:79312
Joubert Syndrome 33	Splenomegaly, Cone/cone-rod dystrophy	OMIM:617767
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec...	OMIM:601495
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly...	ORPHA:158029
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elevated urine 3-methyladipic acid...	OMIM:618156
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros...	ORPHA:449395
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg...	OMIM:276700
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin...	ORPHA:2969
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Fetal Cytomegalovirus Syndrome	Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Chorioretinitis, Anemia, Thrombocytop...	ORPHA:294
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ...	ORPHA:465508
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat...	ORPHA:1414
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly...	ORPHA:158057
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom...	OMIM:618495
Chromosome 2P16.1-P15 Deletion Syndrome	Hypogonadism, Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, Optic nerve ...	OMIM:612513
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Microphthalmia	OMIM:615181
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney	OMIM:618188
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia o...	ORPHA:290
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Facial diplegia, Hypogonadism	OMIM:160900
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Nabais Sa-De Vries Syndrome, Type 1	Prolonged neonatal jaundice, Vesicoureteral reflux, Optic nerve hypoplasia	OMIM:618828
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal insufficiency, Lipid accumulation in hepatocytes, Cardiomegaly, Hydronephrosis, Hepatic cal...	OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutrop...	ORPHA:79259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegal...	ORPHA:505248
Verheij Syndrome	Renal cyst, Renal hypoplasia, Renal agenesis, Optic nerve hypoplasia	OMIM:615583
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Muckle-Wells Syndrome	Nephropathy, Optic atrophy, Renal amyloidosis, Splenomegaly, Anemia, Delayed puberty, Hepatomegal...	ORPHA:575
Wolman Disease	Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-m...	ORPHA:75233
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal...	OMIM:612651
Stromme Syndrome	Accessory spleen, Retinal vascular tortuosity, Bilateral renal hypoplasia, Hydronephrosis, Microp...	OMIM:243605
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cherry red spot of the macula, Ascites, Increas...	OMIM:256550
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi...	OMIM:614700
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypo...	OMIM:619321
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Meacham Syndrome	Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus...	OMIM:608978
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ...	ORPHA:116
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Decreased testic...	ORPHA:261349
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Aniridia-Intellectual Disability Syndrome	Aniridia, Optic nerve hypoplasia	ORPHA:1068
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A...	OMIM:618280
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Horner syndrome, Increased retinal vas...	OMIM:606519
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ...	ORPHA:507
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hypospadias, Optic nerve hypoplasia	ORPHA:363686
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia	OMIM:615280
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eosinophilia,...	ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Optic nerve hypoplasia	OMIM:620502
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre...	ORPHA:95494
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi...	ORPHA:1655
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia	ORPHA:370959
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Tangier Disease	Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Left ventr...	OMIM:205400
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ov...	ORPHA:79083
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Optic nerve hypoplasia	ORPHA:261250
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Cerebral Visual Impairment	Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ...	ORPHA:447788
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c...	ORPHA:226307
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Immunodeficiency 10	Recurrent urinary tract infections, Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic an...	OMIM:612783
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cryptorchidism, Retinal atrophy, Retinal detachment, Microphthalmia, Retinal dyspl...	OMIM:236670
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620157
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Tatton-Brown-Rahman Syndrome	Vesicoureteral reflux, Optic nerve hypoplasia	OMIM:615879
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Pancytopenia, Hepatosplenomegaly,...	OMIM:606003
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Fg Syndrome Type 1	Small pituitary gland, Hypospadias, Cryptorchidism, Optic nerve hypoplasia	ORPHA:93932
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Spherocyt...	ORPHA:251066
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
D-Glyceric Aciduria	Micropenis, Aminoaciduria, Optic nerve hypoplasia	OMIM:220120
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Spl...	ORPHA:77259
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Splenomegaly, Hypothyroidism, Mucopolysacchariduria, Hypercalciur...	OMIM:618440
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia, Sep...	ORPHA:3301
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly...	OMIM:201100
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly	OMIM:230800
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Optic nerve hypoplasia	ORPHA:572013
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ...	ORPHA:79328
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Leprechaunism	Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Overgrowth of externa...	ORPHA:508
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Lipemia retinalis, Splenomegaly	OMIM:207750
Lesch-Nyhan Syndrome	Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicular atrophy	OMIM:300322
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Spastic Paraplegia 54, Autosomal Recessive	Urinary incontinence, Optic nerve hypoplasia	OMIM:615033
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Type I diabetes mellitus, Splenomegaly, Autoimmune hemolytic anemia, Optic neuritis, Lymphadenopa...	ORPHA:436159
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Cholestasis, Renal tubular acidosis, S...	ORPHA:264580
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent...	OMIM:610199
Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney	OMIM:252500
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,...	OMIM:613179
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Exocrine pancr...	ORPHA:508498
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Chediak-Higashi Syndrome	Hemophagocytosis, Ocular albinism, Decreased nerve conduction velocity, Leukopenia, Giant neutrop...	OMIM:214500
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom...	OMIM:306955
Gray Platelet Syndrome	Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly, Menorrhagia	OMIM:139090
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Splenomegaly, A...	OMIM:239200
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Glomerulonephritis, He...	ORPHA:2137
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Dysmenorrhea, Pol...	ORPHA:79240
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, ...	OMIM:612541
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Jaundice, Prol...	OMIM:615512
Ogden Syndrome	Polycythemia, Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Cardio...	OMIM:300855
Proteus Syndrome	Retinal nonattachment, Long penis, Thymus hyperplasia, Diabetes insipidus, Chorioretinal coloboma...	ORPHA:744
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:101085
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Nephroblasto...	ORPHA:500095
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Renal cy...	ORPHA:495875
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Anemia, Diabetes mellitus, Optic nerve hypoplasia	OMIM:609069
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level...	ORPHA:293978
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Craniosynostosis 4	Ectopic posterior pituitary, Optic nerve hypoplasia	OMIM:600775
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
White-Sutton Syndrome	Duplicated collecting system, Rod-cone dystrophy, Optic nerve hypoplasia	OMIM:616364
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu...	OMIM:615873
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla...	OMIM:153670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Sensory axonal neuropathy, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficienc...	OMIM:157640
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni...	OMIM:249100
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Cryptorchidism, Optic nerve hypoplasia	OMIM:620025
Aniridia 1	Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Aniridia, Hy...	OMIM:106210
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia	OMIM:222765
Rabin-Pappas Syndrome	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620155
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal autonomic nervous system physiology, Optic nerve hypoplasia	ORPHA:300570
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Splenomegaly, Lipemia retinalis, Jaundice, Acute pancreatitis	OMIM:238600
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma	OMIM:300749
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia	OMIM:307200
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:615947
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal optic nerve morphology, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hyd...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal optic nerve morphology, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hyd...	ORPHA:352665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O...	OMIM:614643
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenome...	OMIM:617913
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h...	ORPHA:567983
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Pancreatic islet-...	OMIM:312870
Cystinosis, Nephropathic	Hematuria, Hepatomegaly, Male infertility, Aminoaciduria, Generalized aminoaciduria, Male hypogon...	OMIM:219800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Cryptorchidism, Optic nerve hypoplasia	OMIM:617506
Spondylodysplastic Ehlers-Danlos Syndrome	Optic disc coloboma, Hypogonadism, Cryptorchidism, Agenesis of pineal gland, Optic nerve hypoplasia	ORPHA:536471
Rhombencephalosynapsis	Aganglionic megacolon, Abnormal renal morphology, Septo-optic dysplasia, Abnormality of the uterus	ORPHA:59315
Joubert Syndrome 21	Optic atrophy, Hyperechogenic kidneys, Retinopathy, Splenomegaly, Anophthalmia, Megalopapilla, Re...	OMIM:615636
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Hep...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hyperinsulinemia, Labial hypertrophy, Type II diabetes mellitus, Decreased ...	OMIM:269700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone resp...	OMIM:301068
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Congenital Fibrosis Of Extraocular Muscles	Hypogonadotropic hypogonadism, Optic nerve hypoplasia	ORPHA:45358
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Chorioretinal coloboma, Optic disc colobo...	ORPHA:141099
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Marshall-Smith Syndrome	Optic nerve hypoplasia, Cryptorchidism, Bilateral cryptorchidism	OMIM:602535
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Phace Syndrome	Retinal vascular malformation, Optic nerve hypoplasia, Hypothyroidism, Microphthalmia, Lens colob...	ORPHA:42775
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplas...	ORPHA:84064
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Hydranencephaly	Atrophic pituitary gland, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Proteinuria, Perito...	ORPHA:342
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Cerebrooculonasal Syndrome	Hypoplastic male external genitalia, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral mic...	ORPHA:508488
Blau Syndrome	Nephropathy, Abnormal optic nerve morphology, Abnormality of the liver, Stage 5 chronic kidney di...	ORPHA:90340
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Asparagine Synthetase Deficiency	Optic nerve hypoplasia	OMIM:615574
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Chorioretinitis, Hypercalciuria, ...	OMIM:181000
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Ectopic kidney	ORPHA:3063
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Absent gallbladder, Bilateral renal d...	ORPHA:500150
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te...	ORPHA:273
Baller-Gerold Syndrome	Optic atrophy, Anomalous splenoportal venous system, Perineal fistula, Abnormality of the kidney,...	OMIM:218600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Chordee, Phimosis, Optic nerve hypoplasia	OMIM:620455
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia	OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Small scrotum, Optic nerve hypoplasia	OMIM:620330
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin...	ORPHA:64
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Cryptorchidism, Fetal pyelectasi...	OMIM:619841

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 Hcls1

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 Hcls1.

No publications found that use IMPC mice or data for Hcls1.

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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
Hcls1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hcls1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Hcls1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hcls1 MGI:104568

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Hcls1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data