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Gene: Atm MGI:107202

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ataxia telangiectasia mutated
Synonyms:
C030026E19Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Atm 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 Atm by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Breast Cancer
Breast carcinoma OMIM:114480
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the thymus, Neoplasm, Diabetes mellitus, Polycystic ovarie... ORPHA:100
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Ataxia-Telangiectasia
Hypoplasia of the thymus, Delayed puberty, Inability to walk, Progressive cerebellar ataxia, Atax... OMIM:208900

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
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
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Immunodeficiency 18
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... OMIM:615615
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... ORPHA:145
Glioma Susceptibility 9
Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung, Astrocytoma OMIM:616568
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias OMIM:247640
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:615513
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 15A
Decreased proportion of memory B cells, Recurrent respiratory infections, Chronic mucocutaneous c... OMIM:618204
Serrated Polyposis Syndrome
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... ORPHA:157798
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Decreased proportion o... OMIM:312863
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Thrombocytopenia, Decreased proportion of CD8-positive T ce... OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:606843
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Immunodeficiency 24
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... OMIM:615897
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Immunodeficiency 48
Recurrent respiratory infections, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... OMIM:269840
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory anemia with r... OMIM:133180
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance OMIM:612227
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Recurrent infections OMIM:235900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia, Acute myeloid leukemia OMIM:252270
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... ORPHA:163634
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Decreased circ... OMIM:300988
N Syndrome
Leukemia, Neoplasm, Cryptorchidism, Hypospadias OMIM:310465
Lynch Syndrome 4
Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614337
Desmoid Disease, Hereditary
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis OMIM:135290
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Nep... OMIM:613029
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Autoimmune thrombocyto... OMIM:618534
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goite... OMIM:180295
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG leve... OMIM:618987
Muir-Torre Syndrome
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... OMIM:158320
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Recurrent viral pneumonia, Recurrent viral upper r... OMIM:619773
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Abnormal T cell morphology, Recurrent bacterial infections, Decr... OMIM:613502
Subependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251639
Ependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251636
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Decrease... OMIM:613493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Tumor Predisposition Syndrome 2
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... OMIM:619975
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased serum leptin, Insulin resistance, Increased intraabdominal fat, Decrease... ORPHA:79085
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Recurrent bacterial infections, Lymphopenia,... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:608106
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma ORPHA:50944
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Myelodysplasia, Thrombocytopenia, Neutropenia OMIM:614082
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Type II diabetes mellitus, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:619707
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... ORPHA:169079
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Familial Multinodular Goiter
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Multinodular goiter, Colorec... ORPHA:276399
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Immunodeficiency 11
Recurrent respiratory infections, Reduced antigen-specific T cell proliferation, Monocytopenia, A... OMIM:615206
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Breast Cancer
Breast carcinoma OMIM:114480
Gonadoblastoma
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... ORPHA:206484
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... ORPHA:435660
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Recurrent lower respirator... OMIM:616005
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, Co... ORPHA:70593
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:612692
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Lymphedema, Primary, With Myelodysplasia
Verrucae, Decreased CD4:CD8 ratio, Leukemia, Myelodysplasia, Pancytopenia, Acute myeloid leukemia OMIM:614038
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Refractory anemia, Myelodysplasia, Lymphoma, Monocytosis, Acute myeloid leukemia OMIM:616871
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Loss of facia... ORPHA:435651
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Sepsis, Lymphopenia, Impaired T cell function, Lack of T ce... OMIM:267500
Thymoma, Familial
Thymoma, Neoplasm OMIM:274230
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Neoplasm of the lung, Ovarian neoplasm, Neoplasm of the central... ORPHA:83469
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia, Reduced natural killer cell count, Panhypogammaglo... OMIM:615214
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... ORPHA:231401
Unclassified Myelodysplastic Syndrome
Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia, Acute myeloid leukemia ORPHA:98827
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent infections OMIM:616941
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia, Pancyto... OMIM:619041
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Leukemia, Myeloid leukemia, Pancytopenia, Aplastic anemia OMIM:614743
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... OMIM:618944
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia OMIM:618309
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Primary Erythromelalgia
Leukemia ORPHA:90026
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopen... OMIM:614470
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Recurrent o... OMIM:618982
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Streak ovary, Elevated... OMIM:615723
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, Recurrent otitis m... ORPHA:277
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Hepatosplenomegaly, Recurrent ur... OMIM:619802
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71526
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... ORPHA:158057
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent otitis media, R... OMIM:608971
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
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
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Aplastic anemia, Hemophagocytosis, Reduced natural killer cell ... OMIM:308240
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... OMIM:613501
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... OMIM:614868
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Myelodysplasia, Ly... OMIM:614172
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... OMIM:615592
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, Recurrent otitis media, Recurrent pneumonia, B lymphocytope... OMIM:615518
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplasm, Multiple myeloma, N... ORPHA:79140
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Immunodeficiency 54
Lymphoproliferative disorder, Reduced natural killer cell count, Failure to thrive, Adrenal insuf... OMIM:609981
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Ollier Disease
Hemangioma, Neoplasm, Precocious puberty, Anemia, Visceral angiomatosis, Multiple enchondromatosi... ORPHA:296
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial skin infections... ORPHA:217390
Dohle Bodies And Leukemia
Anemia, Leukocyte inclusion bodies, Acute myeloid leukemia OMIM:223350
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoatrophy OMIM:613877
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... OMIM:609529
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, ... OMIM:604367
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Azoospermia, Male infertility, Cerebellar atrophy ORPHA:276183
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system ORPHA:2221
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Recurrent viral infections, Decreased CD4:CD8 ratio, Decreased ... OMIM:300853
46,Xy Sex Reversal 6
Dysgerminoma, Gonadoblastoma, Clitoral hypertrophy, Sex reversal, Chordee, Gonadal dysgenesis, Hy... OMIM:613762
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent gastroenteritis, Chronic... OMIM:615607
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... OMIM:618969
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Visceral angiomatosis, Hamartoma, Neoplasm of the breast, Ovarian ... ORPHA:137608
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Abnormal alpha granule content, Myelodysplasia, Thrombocytopenia, Abnor... OMIM:601399
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Sarcoma ORPHA:66661
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thymoma, Mediastinal lymphadenopathy, Anemia, Diabetes mellitus... ORPHA:169105
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Reduced subcutaneous adipose tissue,... OMIM:612526
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Myelodysplasia, Multiple lineage myelo... ORPHA:86841
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... OMIM:276300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating ant... OMIM:615285
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Autoim... OMIM:619846
Obesity And Hypopigmentation
Polyphagia, Red hair, Hyperinsulinemia OMIM:620195
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
46,Xy Sex Reversal 10
Dysgerminoma, Perineal hypospadias, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Partial absence of specific antibody response to tetanus vaccin... OMIM:618108
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Recurrent lower res... OMIM:619774
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Recurrent respiratory infections, Leukopenia, Partial absence of specific ant... OMIM:618986
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Impaired Ig class switch recombination, Hemolytic anemia, Sepsis... OMIM:308230
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... OMIM:619510
Wt Limb-Blood Syndrome
Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia OMIM:194350
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Endometrial carcinoma, Papillary thyroid carcinoma OMIM:612359
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... ORPHA:324575
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent bacterial ... ORPHA:911
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... ORPHA:523
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia OMIM:222100
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, B-cell lymphoma, Splenomegaly OMIM:619437
Hemochromatosis, Type 2A
Splenomegaly, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea OMIM:602390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Fine hair, Diabetes insipidus, Type II diabetes mellitus, Insuli... ORPHA:181393
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Failure to thri... OMIM:605724
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... ORPHA:276580
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Ovarian Fibrothecoma
Abnormal endometrium morphology, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma... ORPHA:314478
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Recurrent bacterial ... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Recurrent upper and lower respiratory tract infections, Abnormal B cell count... ORPHA:331206
Immunodeficiency 52
Recurrent infections, Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, L... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... OMIM:600802
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... ORPHA:168563
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent fungal infections, Decreased proportion of CD4-positive helper T cells, Lack of T cell ... ORPHA:572
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... ORPHA:480536
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Gonadal dysgenesis OMIM:136680
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... OMIM:114500
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Anemia, Pancytopenia, Acute myeloid leukemia OMIM:616435
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Familial Colorectal Cancer Type X
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Renal neoplasm, ... ORPHA:440437
Addison Disease
Delayed puberty, Premature ovarian insufficiency, Thymoma, Adrenal hypoplasia, Normocytic anemia,... ORPHA:85138
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calcification, Ovarian fibr... ORPHA:314473
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Recurrent viral infections, ... OMIM:243700
Liposarcoma
Sarcoma ORPHA:69078
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Meningioma, Increased circulating cortisol level, Decreased male ... ORPHA:652
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Ovarian neoplasm, Fibroadenoma of the breast, Trichilemmoma ORPHA:65285
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Sarcoma ORPHA:626
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Renal cell carcinoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Cuta... OMIM:150800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Recurrent respiratory infections, Decreased circulating total IgM, Impaired l... ORPHA:35078
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Reduced natural killer cell count, Decreased circ... OMIM:241600
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... OMIM:300310
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia, Obesity OMIM:615703
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Papular Xanthoma
Histiocytosis ORPHA:158008
Autoimmune Polyendocrinopathy Type 3
Graves disease, Thymoma, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Aut... ORPHA:227982
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Werner Syndrome
Neoplasm, Melanoma, Cutaneous melanoma, Renal neoplasm, Squamous cell carcinoma, Meningioma, Hypo... ORPHA:902
Acquired Partial Lipodystrophy
Generalized hirsutism, Insulin resistance, Lipoatrophy ORPHA:79087
Autoimmune Polyendocrinopathy Type 4
Graves disease, Thymoma, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Aut... ORPHA:227990
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hyperin... ORPHA:276575
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Recurrent viral infections, Lymphopenia, Reduced delayed hypersensitivity, Re... OMIM:242700
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... ORPHA:52901
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperglycemia, Hyperinsulinemia ORPHA:329249
Amed Syndrome, Digenic
Leukopenia, Anemia, Myelodysplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leu... OMIM:619151
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Fanconi Anemia, Complementation Group S
Anemia, Breast carcinoma, Ovarian carcinoma, Failure to thrive, Chromosome breakage, Ovarian neop... OMIM:617883
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:615767
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the thymus, Neoplasm, Diabetes mellitus, Polycystic ovarie... ORPHA:100
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Recurrent staphylococcal infections, Transient ne... OMIM:607676
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Neoplasm, Hashimoto thyroiditis OMIM:159400
Cowden Syndrome 1
Goiter, Carcinoma, Meningioma, Breast carcinoma, Lymphopenia, Ovarian carcinoma, Varicocele, Hama... OMIM:158350
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Prem... ORPHA:280365
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... ORPHA:66628
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Impaired vibratory sensation, Hypergonadotropic hypogonadism OMIM:613724
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Lynch Syndrome
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ne... ORPHA:144
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue... ORPHA:363400
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... ORPHA:2591
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Splenomegaly, Anemia ORPHA:37748
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... ORPHA:179494
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Ataxia... ORPHA:243
Retinoblastoma
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia,... ORPHA:486
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
Gordon Holmes Syndrome
Oligomenorrhea, Primary amenorrhea, Ataxia, Chorea, Hypogonadotropic hypogonadism, Secondary amen... OMIM:212840
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Decreased proportion of CD3-positive T cells... ORPHA:331235
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Leptin Receptor Deficiency
Polyphagia, Abnormal eating behavior, Delayed puberty, Diabetes mellitus, Decreased response to g... OMIM:614963
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Leukemia, Nephroblastoma OMIM:602501
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Anemia, Thrombocytopenia, Neoplasm of the central nervous ... ORPHA:69077
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, React... ORPHA:276556
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Anemia, Bone marrow hypocellularity, Thrombo... OMIM:617243
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Splenomegaly OMIM:162830
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Hyperthyroidism, Type II diabetes mellitus, Hypothyroidism, Iron deficiency an... OMIM:269200
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Gait disturbance, Hypogonadism ORPHA:1875
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Peripheral Primitive Neuroectodermal Tumor
Uterine neoplasm, Anemia, Neoplasm of the pancreas, Brain neoplasm, Peripheral primitive neuroect... ORPHA:370348
Muir-Torre Syndrome
Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... ORPHA:587
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... OMIM:242860
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Leptin Deficiency Or Dysfunction
Polyphagia, Decreased serum leptin, Hypogonadism OMIM:614962
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... ORPHA:220460
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Ata... OMIM:308700
Myasthenia Gravis
Abnormality of the endocrine system, Thymoma OMIM:254200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased CD4:CD8 ratio, Au... OMIM:618495
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipoatrophy, A... ORPHA:2457
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... OMIM:608600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Cancer-Associated Retinopathy
Thymoma, Cutaneous melanoma, Small cell lung carcinoma, Malignant genitourinary tract tumor, Uter... ORPHA:71505
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Ataxia, Tremor, Deficient excision of UV-induced pyrimidine dimers in DNA, ... OMIM:278760
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased circulating IgA level, Recurrent viral infectio... OMIM:618048
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Ring Chromosome 21 Syndrome
Gait disturbance, Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
48,Xxyy Syndrome
Decreased testicular size, Cryptorchidism, Ataxia, Hypoplasia of penis, Infertility, Hypergonadot... ORPHA:10
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance OMIM:615980
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Small for gestational age, A... OMIM:227650
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... OMIM:620210
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Bloom Syndrome
Decreased fertility in females, Cryptorchidism, Small for gestational age, Leukemia, Azoospermia,... OMIM:210900
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma, Adrenocortical adenoma ORPHA:231632
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Sepsis, Autoimmune hemolytic anemia... OMIM:616100
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Anemia, Sepsis, Chronic oral c... OMIM:616740
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... OMIM:617099
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Exostoses, Multiple, Type Ii
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:619752
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Abscess, Increased circulating IgE level, Chr... OMIM:615816
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Reduced subcutaneous ... ORPHA:280356
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28 OMIM:300624
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Splenomegaly, Acute leukemia ORPHA:3318
Young Syndrome
Azoospermia OMIM:279000
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Small for gestational age, A... OMIM:600901
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... ORPHA:99330
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... OMIM:615559
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Recurrent lower respiratory tract infections, D... OMIM:615758
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism, External genital hypoplasia OMIM:613390
Thymoma
Neoplasm of the thyroid gland, Neoplasia of the pleura, Neoplasm, Aplastic anemia, Pure red cell ... ORPHA:99867
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Myeloid leukemia, Aplastic anemia, Anemia, Myelodysplasia, Pancytopenia OMIM:614742
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... OMIM:618394
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Dysgenesis of the cerebellar vermis, Micropen... ORPHA:8
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Familial Adenomatous Polyposis 3
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... OMIM:616415
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Myeloid leukemia, Leukocytosis, Normocytic anemia, Chronic myelomono... ORPHA:98849
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044