Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mutS homolog 2
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Msh2 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 predicted to be associated to Msh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Familial Adenomatous Polyposis 4
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer OMIM:617100
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Oslam Syndrome
Osteosarcoma, Neoplasm OMIM:165660
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Gastric Cancer
Stomach cancer OMIM:613659
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm, Abnormal hair morphology OMIM:601811
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:153600
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... OMIM:613244
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Oslam Syndrome
Osteosarcoma ORPHA:2760
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Intussusception, Prosta... ORPHA:157794
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... ORPHA:2126
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... OMIM:135150
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin OMIM:194400
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
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
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Immunodeficiency 105
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Lymphopenia, S... OMIM:619924
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... ORPHA:158057
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma, Premature graying of hair OMIM:112250
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614350
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Hemangioma, Multiple enchondromatosis... ORPHA:296
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Pten Hamartoma Tumor Syndrome
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... ORPHA:306498
Ganglioneuroma
Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal rectum morphology,... ORPHA:251992
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... ORPHA:370348
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma, Squamous cell carcinoma of the vulva, Anal canal squamous carcinoma, Ver... ORPHA:217390
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, Seborrheic ... OMIM:278760
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Desmoid Tumor
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... ORPHA:873
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcifi... ORPHA:314478
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Impaired Ig c... OMIM:605258
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Abnormal lymp... OMIM:609529
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Osteosarcoma, Elevated circulating... OMIM:277700
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Myeloma, Multiple
Multiple myeloma, Paraproteinemia OMIM:254500
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... OMIM:301082
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Ring Chromosome 12 Syndrome
Hirsutism, Cryptorchidism, High, narrow palate, Hemangioma, Glandular hypospadias, Dystrophic toe... ORPHA:1439
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Abnormal esophagus morphology, Abn... ORPHA:1018
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Xeroderma Pigmentosum, Variant Type
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma OMIM:278750
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... ORPHA:263665
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Meige Disease
Angiosarcoma ORPHA:90186
Hirschsprung Disease
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... ORPHA:388
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency, Common Variable, 2
Neoplasm, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial... OMIM:240500
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... ORPHA:109
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Neoplasm of the lung, Gingival fibromatosis, ... ORPHA:2591
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Decreased circulating... OMIM:618534
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Mast Cell Sarcoma
Sarcoma, Hepatomegaly ORPHA:66661
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Cronkhite-Canada Syndrome
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Furrowed tongue, Intestinal polyposis, Col... ORPHA:2930
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Decreased circulating antibod... OMIM:618261
Large Congenital Melanocytic Nevus
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Nijmegen Breakage Syndrome
Anal atresia, Sinusitis, Medulloblastoma, Glioma, Cleft palate, Otitis media, Rhabdomyosarcoma, B... OMIM:251260
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... ORPHA:99880
Liposarcoma
Sarcoma ORPHA:69078
Pilomatrixoma
Pilomatrixoma OMIM:132600
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Sparse scalp hair, Premature graying of hair, Sparse hair, Sparse eyebrow, Alop... OMIM:268400
Immunodeficiency 36
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:616005
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... ORPHA:143
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia OMIM:619164
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, ... OMIM:614470
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Anal canal squamous cell carcinoma, Int... ORPHA:424019
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... OMIM:619097
Rothmund-Thomson Syndrome Type 1
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Squamous ce... ORPHA:221008
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eosinophilia, Eczema... OMIM:243700
Fibrous Dysplasia Of Bone
Precocious puberty in females, Elevated circulating growth hormone concentration, Thyroid carcino... ORPHA:249
Gonadoblastoma
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... ORPHA:206484
Rothmund-Thomson Syndrome Type 2
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Lymphoma, S... ORPHA:221016
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Gastrointestinal stroma tumor OMIM:606764
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Blue Rubber Bleb Nevus
Intestinal bleeding, Intussusception, Hemangioma, Iron deficiency anemia, Rectal prolapse, Cerebe... OMIM:112200
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... ORPHA:2221
Tylosis With Esophageal Cancer
Neoplasm, Esophageal carcinoma OMIM:148500
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Baller-Gerold Syndrome
Osteosarcoma, Lymphoma ORPHA:1225
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... ORPHA:1572
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... ORPHA:2869
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ... ORPHA:1916
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy OMIM:181600
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Aplastic anemia, Neuroblastoma OMIM:610832
Rhabdoid Tumor
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm ORPHA:69077
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice OMIM:162240
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Aicardi Syndrome
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Sparse... OMIM:304050
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis, Breast carcinoma OMIM:608615
Medulloblastoma
Medulloblastoma OMIM:155255
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, De... OMIM:619510
Atypical Werner Syndrome
Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogon... ORPHA:79474
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splen... OMIM:618394
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... ORPHA:275
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... ORPHA:97290
Carney-Stratakis Syndrome
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor ORPHA:97286
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... OMIM:613254
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... OMIM:614700
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Breast carcinoma, Gastr... ORPHA:97685
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Mel... OMIM:278740
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Cryptorchidism OMIM:613951
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma, Spontaneous esophageal perforation, Esophageal stricture, Abnormal esoph... OMIM:226600
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
46,Xy Sex Reversal 6
Chordee, Hirsutism, Sex reversal, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Non-Hodgkin lymphoma, Basal cell carcinom... ORPHA:3261
Chromomycosis
Squamous cell carcinoma, Multiple cutaneous malignancies ORPHA:182
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:616100
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Immunodeficiency 57 With Autoinflammation
Gastritis, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, Decreased c... OMIM:618108
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Yellow Nail Syndrome
Neoplasm, Yellow nails, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma ORPHA:662
Papillon-Lefèvre Syndrome
Squamous cell carcinoma, Melanoma, Neoplasm of the skin ORPHA:678
Blackfan-Diamond Anemia
Malignant genitourinary tract tumor, Low anterior hairline, Hypospadias, Adenocarcinoma of the co... ORPHA:124
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Hepatosplenomegaly, D... OMIM:301081
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recur... OMIM:619752
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Diamond-Blackfan Anemia 1
Myelodysplasia, Osteosarcoma, Colon cancer OMIM:105650
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Platelet Disorder, Undefined
Hematological neoplasm, Impaired platelet aggregation, Neuroblastoma, Thrombocytopenia OMIM:173420
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, De... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in... ORPHA:90790
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the colon, Appendiceal mucinous neoplas... ORPHA:100079
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid glan... ORPHA:252164
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Bas... OMIM:278720
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Hematochezia ORPHA:160148
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hypertrichosis, Hepatosplenomegaly OMIM:619750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal hair quantity, Alopecia, Abnormal penis morphology, Testicular neopl... ORPHA:457059
Trichothiodystrophy 1, Photosensitive
Squamous cell carcinoma, Basal cell carcinoma, Intestinal obstruction, Malabsorption OMIM:601675
Selective Igm Deficiency
Keratitis, Multiple myeloma, Stomach cancer, Otitis media, Rheumatoid arthritis, Lymphadenitis, N... ORPHA:331235
Medulloblastoma
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma, Furrowed tongue, Oral leukoplakia OMIM:148210
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Thick eyebrow, High, narrow palate, Breast carcinoma, Melanoma, Endometrial carcinoma ORPHA:457212
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma OMIM:610474
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow ... ORPHA:443811
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... ORPHA:424016
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Cowden Syndrome 6
High palate, Breast carcinoma, Fibroadenoma of the breast, Furrowed tongue, Transitional cell car... OMIM:615109
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp, Lactose intolerance ORPHA:457485
Oculocutaneous Albinism Type 1B
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma ORPHA:79434
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... ORPHA:273
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastrointestinal ... OMIM:175500
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Uveitis, Hypereos... OMIM:617388
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Cowden Syndrome 1
High palate, Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Furrowed tong... OMIM:158350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Rothmund-Thomson Syndrome
Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Leukemia, Neoplasm of th... ORPHA:2909
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... ORPHA:2442
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... ORPHA:139411
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Tuberous Sclerosis 1
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... OMIM:191100
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM OMIM:615139
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal esophagus morphology, Squamous cell carcinoma, Esophageal stricture, Esophageal stenosis... ORPHA:89842
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast ORPHA:65285
Cowden Syndrome 5
High palate, Breast carcinoma, Furrowed tongue, Transitional cell carcinoma of the bladder, Colon... OMIM:615108
Xeroderma Pigmentosum, Complementation Group B
Squamous cell carcinoma of the skin, Basal cell carcinoma, Neoplasm, Cutaneous melanoma OMIM:610651
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma ORPHA:199276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Mccune-Albright Syndrome
Pituitary adenoma, Intestinal polyposis OMIM:174800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Bloom Syndrome
Squamous cell carcinoma, Cryptorchidism, Leukemia, Lymphoma OMIM:210900
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Kid Syndrome
Squamous cell carcinoma, Trichilemmoma, Neoplasm of the skin, Neoplasm of the tongue ORPHA:477
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Breast carcinoma, Narrow palate, Long eyela... OMIM:617883
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Ankyloglossia, O... ORPHA:2907
Czech Dysplasia
Osteochondroma OMIM:609162
Lymphedema-Distichiasis Syndrome
Distichiasis, Fibrosarcoma ORPHA:33001
Congenital Central Hypoventilation Syndrome
Neuroblastoma, Neoplasm of the central nervous system, Ganglioneuroma, Ganglioneuroblastoma, Agan... ORPHA:661
Neuroblastoma, Susceptibility To, 2
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma, Aganglionic megacolon OMIM:613013
Basal Cell Nevus Syndrome
Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... OMIM:109400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Dyskeratosis Congenita, X-Linked
Hodgkin lymphoma, Anal mucosal leukoplakia, Squamous cell carcinoma, Myelodysplasia, Esophageal s... OMIM:305000
Immunodeficiency 23
High palate, Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating ... OMIM:615816
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Myelodysplasia, Bone marrow hypocellulari... OMIM:127550
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer, Otitis media, Abscess, Uv... ORPHA:125
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ... OMIM:619767
Oculocutaneous Albinism Type 1A
Squamous cell carcinoma of the skin, Basal cell carcinoma ORPHA:79431
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:618495
Trichothiodystrophy
Squamous cell carcinoma, Cryptorchidism, High, narrow palate ORPHA:33364
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Malabsorption, Macroglossia, T lymphocytopenia, Protr... OMIM:242860
Familial Pancreatic Carcinoma
Neoplasm of the liver, Extrahepatic cholestasis, Breast carcinoma, Melanoma, Hepatosplenomegaly, ... ORPHA:1333
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Tempi Syndrome
Polycythemia, Hemangioma, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278700
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Duodenal atresia, Cleft palate, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelo... ORPHA:1052
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Adenocarcinoma of the large intestine, Splenomegaly, Hepatosplenomegaly, Hepa... ORPHA:171
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Adenomatous colonic polyposis, High palate, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Mastocytosis
Acute leukemia, Hepatomegaly, Sarcoma, Chronic leukemia ORPHA:98292
Ataxia-Telangiectasia
Hodgkin lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, ... OMIM:208900
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Eczema, Decreased mean platelet volume, Abnormal delayed hypersensi... OMIM:301000
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... ORPHA:90362
Kindler Epidermolysis Bullosa
Abnormality of the anus, Colitis, Inflammation of the large intestine, Squamous cell carcinoma, E... ORPHA:2908
Immunodeficiency 17
Recurrent otitis media, Chronic oral candidiasis, Anoperineal fistula, Eczema, T lymphocytopenia,... OMIM:615607
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Hepatocellular carcinoma, Sc... ORPHA:2137
Simple Cryoglobulinemia
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Complement deficiency, Monoclonal ... ORPHA:91139
Okur-Chung Neurodevelopmental Syndrome
High palate, Decreased circulating IgA level, Decreased circulating antibody level, Decreased cir... OMIM:617062
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Intestinal polyposis, Esophageal varix... ORPHA:774
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Oculocutaneous Albinism
Cutaneous melanoma, Hypopigmentation of hair, Basal cell carcinoma, White eyebrow, White eyelashe... ORPHA:55
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Tolchin-Le Caignec Syndrome
Osteochondroma, Hirsutism, Precocious puberty, Thick eyebrow, Cardiac rhabdomyoma OMIM:618971
Monosomy 22
Sparse hair, Aplasia of the thymus, Micropenis, Hepatosplenomegaly, Meningioma, Synophrys, Schwan... ORPHA:96123
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 82 With Systemic Inflammation
Gastritis, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cells, Colitis, Osteomye... OMIM:619381
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma ORPHA:220295
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Aicardi Syndrome
Malabsorption, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal reflux, Multiple lip... ORPHA:50
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Villous atrophy, Abno... ORPHA:391487
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Abnormal hair quantity, Precociou... ORPHA:636
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, In... ORPHA:449400
Xq28 (MECP2) duplication
Dysphagia, Decreased circulating IgA level, Gastroesophageal reflux DECIPHER:45
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... ORPHA:652
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Hypopigmentation of hair, Basal cell carcinoma, White eyebrow, White eyelashe... ORPHA:79432
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Malabsorption, Intussusception, In... ORPHA:90363
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Leukopenia, Increased circulating IgG level, Increased circul... ORPHA:83313
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Lymphopenia, Pustule, Skin rash, Leukopenia, Increased circulati... OMIM:615934
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia OMIM:208910
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Juvenile gastrointestinal polyposis, Hematochezia, Gastrointe... OMIM:175050
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... ORPHA:221
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Medulloblastoma, Cleft palate, Nephroblastoma ORPHA:97297
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Sparse hair, Absent eyebrow, Papillary renal cell carcinoma, Basal cell car... ORPHA:363618
Congenital Erythropoietic Porphyria
Squamous cell carcinoma, Neoplasm of the skin ORPHA:79277
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Cutaneous melanoma, Squamous cell carcinoma, Esophageal ulceration, Ankyloglossia, Anal fissure ORPHA:79408
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia OMIM:600901
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Bannayan-Riley-Ruvalcaba syndrome
High palate, Lipoma, Intussusception, Hemangioma, Multiple lipomas, Hematochezia, Meningioma, Ham... OMIM:153480
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Steatorrhea, Eczema, Lymphoma, Iron deficiency anemia, Macrocyti... OMIM:212750
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia OMIM:227650
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Severe Generalized Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Esophageal stricture ORPHA:79404
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Sialadenitis, Co... ORPHA:449432
Igg4-Related Kidney Disease
Pancreatitis, Complement deficiency, Decreased serum complement C4, Lymphadenitis, Chronic sinusi... ORPHA:449395
Multiple Osteochondromas
Osteochondroma, Scapular exostoses, Rib exostoses, Chondrosarcoma ORPHA:321
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Smooth tongue, Decreased circulating antibody level, Squamous cell car... ORPHA:79396
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Multiple myeloma, Increased circulating IgA level, Decreased serum complement f... ORPHA:2298
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... OMIM:618213
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia OMIM:227645
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278800
Dubowitz Syndrome
High palate, Decreased circulating IgA level, Neuroblastoma, Decreased circulating IgG level, Vel... OMIM:223370
Pineoblastoma
Retinoblastoma, Pinealoma ORPHA:251909
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Sparse scalp hair, Thick eyebrow, Sparse hair, Hydrometrocolpos, Scapular exostos... OMIM:150230
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Sialadenitis, Eosinophilia, Non-Hodgki... ORPHA:449563
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, E... OMIM:227646
Pallister-Hall Syndrome
Hypothalamic hamartoma, Midline facial capillary hemangioma, Ambiguous genitalia, Thyroid hypopla... ORPHA:672
Primary Pigmented Nodular Adrenocortical Disease
Pituitary adenoma, Hirsutism, Fibroadenoma of the breast, Alopecia, Testicular neoplasm, Adrenal ... ORPHA:189439
Hermansky-Pudlak Syndrome
Malabsorption, Squamous cell carcinoma of the skin, Basal cell carcinoma ORPHA:79430
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Myelodysplasia, Neutropenia, Bone marrow hypocellular... ORPHA:508542
Beckwith-Wiedemann Syndrome
Neoplasm, Neuroblastoma, Hepatoblastoma, Hepatomegaly, Cleft palate, Large intestinal polyposis, ... ORPHA:116
Brucellosis
Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Pericarditis, Septic arthritis, Osteom... ORPHA:1304
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Neoplasm, Narrow palate, Otitis media, Intestinal malrotation, Spinal cord tumor, Pilomatrixoma, ... ORPHA:353281
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron... OMIM:300972
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Narrow palate, Decreased response to growth hormone stimulation test, Cleft p... OMIM:618223
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Apert Syndrome
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Esophageal atresia ORPHA:87
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Mogs-Cdg
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:79330
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... ORPHA:363700
Tetrasomy 9P
High palate, Cleft palate, Micropenis, Oligospermia, Bifid uvula, Pilomatrixoma, Absent gallbladd... ORPHA:3310
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Carcinoma, Laryngeal carcinoma OMIM:610644
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Capillary hemangioma, Decreased circul... ORPHA:508533
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... ORPHA:293978
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Gastroesophageal reflux, Splenomegaly, Pancytopenia, Hypersplenism OMIM:613385
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency