Gene Summary

Name:
protein phosphatase 1D magnesium-dependent, delta isoform
Synonyms:
Wip1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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.

Phenotype associated images not available

Human diseases caused by Ppm1d 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.

The table below shows human diseases associated to Ppm1d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Jansen-De Vries Syndrome
OMIM:617450
Breast Cancer
OMIM:114480

The table below shows human diseases predicted to be associated to Ppm1d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Immunodeficiency 24
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... OMIM:615615
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... OMIM:619802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi... OMIM:300853
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Otitis media, Eczema, Recurrent opportunistic infections, T lymphocyt... OMIM:608971
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections OMIM:606445
Immunodeficiency 102
Hepatomegaly, Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:301082
Reticular Dysgenesis
Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophils, Decreased circul... ORPHA:33355
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluc... OMIM:619220
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc... ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Hepatomegaly, Chronic oral candidia... OMIM:300400
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgE level, Increased circu... OMIM:618982
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag... OMIM:267500
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infect... ORPHA:276
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Splenomegaly, Eczema, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyt... ORPHA:2584
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon... ORPHA:848
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Pallor, Leukopenia, A... ORPHA:507
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Eczema, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Bone Marrow Failure Syndrome 5
Testicular atrophy, Decreased circulating antibody level, Pure red cell aplasia, Hypogonadism, An... OMIM:618165
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 17
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T... OMIM:615607
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... OMIM:615122
Wiskott-Aldrich Syndrome
Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... OMIM:301000
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent skin infections, Atrophic gastritis, Recurrent sinu... OMIM:616576
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulatin... OMIM:616100
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Oligospermia, Azoospermia, Hepatic steatosis OMIM:615703
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Chilblain Lupus
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, S... ORPHA:90280
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent opportunistic infections, B lymphocy... ORPHA:35078
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Sepsis, Abnormality of the lymphatic system, Chronic otitis ... ORPHA:47
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Type I diabe... ORPHA:69126
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Cutis laxa, Hypospadias, Decreased circulating antibody lev... OMIM:301045
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... OMIM:602390
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Type I d... OMIM:614700
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Prolidase Deficiency
Increased circulating antibody level, Petechiae, Hepatomegaly, Splenomegaly, Eczema, Recurrent in... OMIM:170100
Immunodeficiency 69
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia, ... OMIM:618963
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Premature ovarian insufficienc... ORPHA:100025
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Recurrent viral infections, De... OMIM:606367
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent ... OMIM:243700
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, D... OMIM:301078
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy... OMIM:619846
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis, Pyoderma gangrenosum OMIM:619986
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Skin rash, Abnormally low T cell recep... OMIM:619374
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... OMIM:235200
Necrobiosis Lipoidica
Abnormality of the thyroid gland, Inflammatory abnormality of the skin, Erythema, Skin ulcer, Dia... ORPHA:542592
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Chronic Granulomatous Disease
Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Sepsis, Eczema, Mediastinal lymphadenopathy,... ORPHA:379
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... OMIM:619510
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anemia OMIM:613313
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Eczema, Type I diabetes mellitus, Pancytopenia, Bone marrow hypocellularity, Skin u... OMIM:615688
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligospermia, Tubulo... ORPHA:85450
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Perioral erythema, Decreased serum testosterone concentration, Hepa... OMIM:201100
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Felty Syndrome
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splen... ORPHA:47612
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutro... OMIM:603552
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Ollier Disease
Skin ulcer, Precocious puberty, Anemia, Lymphangioma ORPHA:296
Lead Poisoning
Infertility, Decreased male libido, Skin rash, Reduced sperm motility, Oligospermia, Abnormality ... ORPHA:330015
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Otitis media, Absent inner dynein arms, Abnormal axonemal... OMIM:613807
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomeg... OMIM:618935
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections OMIM:605309
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Dracunculiasis
Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Recurrent opportunistic infections, Pancytopenia, Bone marrow hypo... OMIM:613987
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... OMIM:610163
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Chronic otitis med... ORPHA:3226
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia, Recurrent otitis media OMIM:618948
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Skin ulcer, ... ORPHA:228119
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Skin ulcer, Ascites, Recurrent respiratory infections ORPHA:834
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Chronic infection, Skin ulcer, Jaundice, Hypopar... ORPHA:231226
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... ORPHA:3261
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... OMIM:600802
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Recurrent pneumonia, Splenomegaly OMIM:602271
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Reduced natural killer cell activity, Meningitis, Pancyto... OMIM:616050
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sepsis, Eczema, Skin ulcer, Blepharitis, Conjunctivitis, Inflammation of... ORPHA:906
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Erythema, Myocarditis, Arthrit... ORPHA:829
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Dry skin, Abnormal lymphocyte mor... ORPHA:39041
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Recurrent ... OMIM:609981
Cryoglobulinemic Vasculitis
Petechiae, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, P... ORPHA:91138
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Viral hepatitis, Colitis, Recurrent ... OMIM:209920
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Hepatomegaly, Decreased c... ORPHA:508533
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Chronic otitis media, Recurrent infections, Skin ... ORPHA:2314
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Dry skin, Increased circulating IgG ... OMIM:617388
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, Interstitial pneumoni... ORPHA:231154
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Sézary Syndrome
Hepatomegaly, Splenomegaly, Dry skin, Abnormal immunoglobulin level, Erythroderma, Abnormal lymph... ORPHA:3162
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum te... ORPHA:465508
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections, Leukocytosis, Splenomegaly OMIM:618042
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,... OMIM:611762
Classic Galactosemia
Hepatomegaly, Sepsis, Primary amenorrhea, Oligomenorrhea, Abnormal erythrocyte enzyme level, Decr... ORPHA:79239
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, Splenomegaly, Colitis, Macu... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Splenomega... OMIM:617591
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Hemophagocytosis, Panniculitis ORPHA:86884
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno... ORPHA:42642
Babesiosis
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infect... ORPHA:108
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Cheilitis, Dyspareunia, Skin rash, Recurrent urinary tract infections... ORPHA:1334
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Primary Sjögren Syndrome
Chronic active hepatitis, Vaginal dryness, Skin ulcer, Lymphadenopathy, Increased circulating ant... ORPHA:289390
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Ataxia-Telangiectasia
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Lymphopenia, Decreased circulating Ig... OMIM:208900
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococ... OMIM:116920
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid h... OMIM:612541
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Abnormality... ORPHA:300298
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst... OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, H... ORPHA:158048
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Type I diabetes mellitus, Pneumonia, Abnorm... ORPHA:37042
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Erythema, Dry skin, Recurrent cystitis, Crusting erythematous dermati... ORPHA:742
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... OMIM:619774
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Recurrent sinusitis, Chronic rhinitis, Male infertility, Chronic sinusitis,... OMIM:612444
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Mediastinal lymphaden... ORPHA:158029
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Dyskeratosis Congenita
Neoplasm of the pancreas, Blepharitis, Periodontitis, Hepatomegaly, Splenomegaly, Cirrhosis, Skin... ORPHA:1775
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... OMIM:612526
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Cryptorchidism, Oligospermia, Nephritis OMIM:314300
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... OMIM:306400
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Increased circulat... OMIM:260920
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis,... OMIM:608233
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... ORPHA:1451
Takayasu Arteritis
Arthritis, Increased inflammatory response, Skin ulcer, Anemia, Inflammatory abnormality of the eye ORPHA:3287
Brucellosis
Hepatomegaly, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Knee osteoarthritis, Pericardi... ORPHA:1304
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Meningitis, Lymphadenop... ORPHA:545
Sweet Syndrome
Oligoarthritis, Neutrophilia, Leukocytosis, Pustule, Sterile abscess, Acne inversa, Myositis, Inf... ORPHA:3243
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma... ORPHA:100026
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Foot osteomyelitis, Acral ulceration ORPHA:139578
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Recurrent... OMIM:618801
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... OMIM:300972
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia ORPHA:163596
Myotonic Dystrophy 2
Type II diabetes mellitus, Decreased circulating IgG level, Decreased circulating total IgM, Olig... OMIM:602668
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... OMIM:614576
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Bronchiectasis, Ski... OMIM:604571
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... OMIM:271500
Amyloidosis, Familial Visceral
Skin rash, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Immunodeficiency 82 With Systemic Inflammation
Gastritis, B lymphocytopenia, Pneumonia, Lymphadenopathy, Decreased proportion of naive T cells, ... OMIM:619381
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Recurrent bacterial infection... OMIM:603903
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Left ventricular hypertrophy, Recur... OMIM:242840
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Absent central microtubular pair morphology of respiratory motile cilia, Recurren... OMIM:617091
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Leukocytosis, Splenomegaly, Skin rash, Peritonitis, Erythema, Erysipelas, Myositis, Art... ORPHA:32960
Q Fever
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... ORPHA:781
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Female infertility, Recurrent sinopulmonary infections, Chron... ORPHA:244
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia OMIM:230900
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Malakoplakia
Inflammatory abnormality of the skin, Orchitis, Skin rash, Follicular hyperplasia, Abnormality of... ORPHA:556
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Myocarditis, Hepatitis, Recurrent ... ORPHA:549
Livedoid Vasculopathy
Graves disease, Leukocytosis, Recurrent skin infections, Polycythemia, Macular purpura, Superfici... ORPHA:542643
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Petechiae, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopat... ORPHA:79477
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Abnormality of the menstrual cycle, Throm... ORPHA:905
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Primary amenorrhea, Oligomenor... ORPHA:79083
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Hepatomegaly, Hemophagocytosis, Splenomegaly,... OMIM:214500
Acquired Purpura Fulminans
Skin rash, Macular purpura, Sepsis, Thrombocytopenia, Pyoderma gangrenosum ORPHA:49566
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Keratitis OMIM:221810
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormalit... ORPHA:2552
Werner Syndrome
Type II diabetes mellitus, Ovarian neoplasm, Thyroid carcinoma, Lack of skin elasticity, Aplasia/... ORPHA:902
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Male infertility, Chronic sinusitis... OMIM:244400
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Neonatal death, Pancytopenia, Thrombocytop... ORPHA:85212
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Menorrhagia, Abnormal number of alp... OMIM:139090
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... ORPHA:77259
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... OMIM:612714
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... OMIM:222300
Majeed Syndrome
Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, Congenital hypop... ORPHA:77297
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Leukopenia, Thromboc... OMIM:603553
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Pancreatitis, Sepsis, Abnormality of the urethra, Erythema, Neutropen... ORPHA:537
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Jaundice ORPHA:75234
Macrophage Activation Syndrome
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthritis, Thrombo... ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Erythema, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Pan... OMIM:619183
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Recurrent sinusitis, Male infertility, Recurrent otitis media, Rhinitis, Absent o... OMIM:614874
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Pallor, Myocarditis, Infectious encephalitis, Lymphadenopathy ORPHA:3386
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... OMIM:257200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:98375
Muckle-Wells Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Arthritis, Uveitis, Recurrent aphthous stomatitis, Delayed... ORPHA:575
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Recurrent bronchopulmonary infections, Nephritis, Splenomegaly, Leukopenia, Sepsis,... OMIM:617303
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Hem... ORPHA:398124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Mixed Connective Tissue Disease
Hepatomegaly, Gastritis, Skin rash, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myosit... ORPHA:809
Reynolds Syndrome
Hepatomegaly, Skin rash, Cirrhosis, Arthritis, Infectious encephalitis, Skin ulcer, Keratoconjunc... ORPHA:779
Cushing Disease
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopen... ORPHA:96253
8P11.2 Deletion Syndrome
Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of t... ORPHA:251066
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pericardi... ORPHA:85414
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Ecchymosi... OMIM:153670
Familial Mediterranean Fever
Crohn's disease, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, E... OMIM:249100
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatomegaly, Periportal fibrosis, Splenomegaly, Adrenal calcification, Ci... OMIM:278000
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Anemic pallor, Thrombocytopenia, Pancytopenia, Ma... OMIM:227650
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Diabetes mellitus, ... ORPHA:2348
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Adrenal calcification, Anemia, Bone-marrow foa... ORPHA:75233
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Transaldolase Deficiency
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... OMIM:606003
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Erythema, Anemia, Pyoderma gangrenosum, Panniculitis OMIM:608068
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Meningitis, Uve... ORPHA:36412
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Meningitis ORPHA:1117
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Abnormality of the hypothalamus-pi... ORPHA:900
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Type I di... OMIM:613385
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Syndromic Diarrhea
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Gastritis, Cirrhosis, Hypoplasi... ORPHA:84064
Sepsis In Premature Infants
Petechiae, Hepatomegaly, Enterocolitis, Leukocytosis, Splenomegaly, Pallor, Severe infection, Dis... ORPHA:90051
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Erythema, Arthritis, Uveitis, Increased inflamma... ORPHA:727
Whipple Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myositis, Myocarditis, Pericarditis, Hyp... ORPHA:3452
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Abno... ORPHA:264580
Buerger Disease
Skin ulcer ORPHA:36258
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Scrub Typhus
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis, Lymp... ORPHA:83317
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Male infertility, Recurrent otitis media, Bronchiectasis, Rhinitis, Absent i... OMIM:614935
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhagia, Polycystic ov... ORPHA:90970
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Abnormality of the adrenal glands, Polycystic ovaries, Skin ulcer... ORPHA:2176
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Blau Syndrome
Keratitis, Iridocyclitis, Skin rash, Splenomegaly, Abnormal inflammatory response, Erythema, Dry ... ORPHA:90340