Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nibrin
Synonyms:
Nbs1

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 Nbn 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 Nbn by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
N Syndrome
Neoplasm, Hypospadias, Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Fanconi Anemia, Complementation Group G
Myelodysplasia, Leukemia, Abnormality of chromosome stability OMIM:614082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy ORPHA:166113
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:300400
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
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
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Chromosome breakage, Breast carcinoma, Long... OMIM:617883
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 105
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, D... OMIM:619924
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
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
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency 76
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, L... OMIM:619164
Ataxia-Telangiectasia
Neoplasm, Hypopigmentation of hair, Abnormal testis morphology, Elevated hepatic transaminase, Po... ORPHA:100
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Growth d... ORPHA:169079
Omenn Syndrome
Failure to thrive, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia... OMIM:603554
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Chromosome breakage, Lymphoproliferative disord... OMIM:609981
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytopenia, Splenome... OMIM:608971
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Hypertrich... ORPHA:1501
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Ab... ORPHA:277
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Lig4 Syndrome
Low anterior hairline, Hepatomegaly, Hypoplasia of penis, Lymphoma, Cryptorchidism, Acute leukemi... ORPHA:99812
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Hodgkin lymphoma, Decreased circulating IgG l... OMIM:208900
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia, Failure to thr... OMIM:601457
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... OMIM:616425
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Gonadoblastoma
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... ORPHA:206484
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation ... ORPHA:2221
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell recept... OMIM:602450
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... OMIM:300853
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Neoplasm of the oral cavity, Decreased... ORPHA:543
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Failure to thrive, Increased circulating IgA level, Lymphop... ORPHA:169154
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal hair quantity, Breast carcinoma, Gastrointestinal stroma ... ORPHA:221
Bloom Syndrome
Hypertrichosis, Chromosome breakage, Recurrent upper respiratory tract infections, Lymphoma, Squa... OMIM:210900
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Immunodeficiency 64
Failure to thrive, B-cell lymphoma, Increased circulating IgA level, Defective T cell proliferati... OMIM:618534
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Pe... OMIM:618108
Immunodeficiency 36
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Lymphopenia, E... OMIM:616005
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Immunodeficiency 102
Decreased circulating IgA level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Chromosome breakage OMIM:617247
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Inc... ORPHA:217390
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Splenomegaly, Anemia, Hypoplasia of the thymus, Monocytosis, Hepa... OMIM:612541
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Nijmegen Breakage Syndrome
B-cell lymphoma, Neoplasm, Glioma, Abnormal hair morphology, Abnormal hair quantity, Low anterior... ORPHA:647
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemia, Short stature, Th... OMIM:227650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... OMIM:618986
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemia, Short stature, Th... OMIM:600901
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, L... ORPHA:100024
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hypoplasia of the thymus, Clitoral hypertrophy, Cryptorchidism, Intrauterine g... OMIM:214110
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Sex reversal ORPHA:85112
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating IgG level, Lymphopenia, Decreased circulating tota... ORPHA:35078
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Enlarged ... OMIM:606367
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemia, Short stature, Th... OMIM:227645
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Syndromic Diarrhea
Lymphopenia, Hepatoblastoma, Splenomegaly, Small for gestational age, Short stature, Hypoplasia o... ORPHA:84064
Aromatase Deficiency
Growth delay, Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunucho... ORPHA:91
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... ORPHA:902
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
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
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Aplasia of the ... OMIM:102700
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Increased cir... OMIM:618048
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... ORPHA:144
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Ovarian Fibrothecoma
Increased serum testosterone level, Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium mo... ORPHA:314478
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Panhypoga... OMIM:600802
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia OMIM:619851
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Decreased serum testosterone concentration, Micropenis, Hyper... ORPHA:2959
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Failure to thrive, Neutropenia, Neutropenia in presence of anti-neutropi... ORPHA:572
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Increased circulating I... ORPHA:443811
Familial Pancreatic Carcinoma
Neoplasm of the liver, Extrahepatic cholestasis, Breast carcinoma, Melanoma, Hepatosplenomegaly, ... ORPHA:1333
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Failure to thrive, Decrea... ORPHA:276
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Small for gestational age... ORPHA:1916
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Short stature, T lymphocytopenia, Increased c... OMIM:242860
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Sebocystomatosis
Adenoma sebaceum, Steatocystoma multiplex ORPHA:841
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Failure to thrive, Decreased circulating ... ORPHA:331206
Wiskott-Aldrich Syndrome
Neoplasm, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormality of t... ORPHA:906
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Immunodeficiency 17
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... OMIM:615607
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Micropenis, Hypergonadotropic hypogonadism, Anemia, Small for gest... OMIM:227646
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Abnormality of the lymph nodes, Lymphoproliferative disorder, E... ORPHA:911
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Short stature, Mitochondrial hypertrophy, Premature ovaria... OMIM:619518
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... ORPHA:370348
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... ORPHA:247768
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... OMIM:614700
Cowden Syndrome 1
Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamartomatous polyp... OMIM:158350
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... ORPHA:3130
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Decreased circulating IgG level, Splenomegaly, Lymphoprolifera... OMIM:613011
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation OMIM:617022
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph node germinal ... ORPHA:79124
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... ORPHA:2795
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Nijmegen Breakage Syndrome
Medulloblastoma, Glioma, Short stature, Rhabdomyosarcoma, B lymphocytopenia, T lymphocytopenia, L... OMIM:251260
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Non-Hodgkin lymphoma, Basal cell carcinoma, T-cell l... ORPHA:3261
Thymic Aplasia
Decreased proportion of naive T cells, Failure to thrive, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Complete or near-c... OMIM:300755
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Treacher-Collins Syndrome
Failure to thrive, Hypoplasia of penis, Hypoplasia of the thymus, Abnormality of the adrenal glan... ORPHA:861
Pyomyositis
Testicular teratoma ORPHA:764
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Fanconi Anemia, Complementation Group B
Micropenis, Hypergonadotropic hypogonadism, Abnormal lung lobation, Hypogonadism, Abnormality of ... OMIM:300514
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:603467
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Chromosome breakage OMIM:614083
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Hirsutism, Pr... ORPHA:99889
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Squamous cell car... OMIM:243700
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation ORPHA:563609
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the posterior ... ORPHA:2495
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Failure to thrive, Hyperthyroidism, Splenomegaly, Short statu... ORPHA:567
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Decreased circulating a... ORPHA:293978
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Splenomegaly, ... OMIM:188400
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Hypoplasia of the thymus, Peritoneal abscess, Rectal abscess, Ty... ORPHA:436252
Immunodeficiency 92
Decreased circulating IgA level, Decreased circulating IgG level, Lymphocytosis, Leukocytosis, B ... OMIM:619652
Immunodeficiency 55
Lymphopenia, Short stature, Myelodysplasia, Absent natural killer cells, Neutropenia, Postnatal g... OMIM:617827
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Multiple myeloma, Decrea... ORPHA:331235
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Fanconi Anemia
Neoplasm, Abnormality of the liver, Absent testis, Bicornuate uterus, Abnormal preputium morpholo... ORPHA:84
Eec Syndrome
Urethral atresia, Decreased response to growth hormone stimulation test, Short stature, Hypospadi... ORPHA:1896
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia ORPHA:244
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Anemia, Severe pos... OMIM:620005
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Intestinal carcinoid, Adenoca... ORPHA:100079
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Postnatal growth r... OMIM:615190
Proteus-Like Syndrome
Exostoses, Splenomegaly, Hemangioma, Abnormality of the parathyroid gland, Thymus hyperplasia, Su... ORPHA:2969
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells OMIM:615758
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Decreased response to growth hormone stimulation test, Short stature, Panhypogammagl... OMIM:307200
Icf Syndrome
Abnormality of chromosome stability, Recurrent respiratory infections ORPHA:2268
Sotos Syndrome
Hydrocele testis, Neoplasm, Neuroblastoma, Prolonged neonatal jaundice, Hemangioma, Hypospadias, ... ORPHA:821
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic arm shortening, Myelodyspla... ORPHA:508542
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-... ORPHA:217260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Capillary hemangioma, Decreased circulating IgG level, Lymphopenia, Decreased circulating total I... ORPHA:508533
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circula... OMIM:601495
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Splenomegaly, Decreased circulating total... OMIM:619381
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Hypothyroidism, Neutr... OMIM:607944
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Failure to thrive, Small for gestational age, Short stature, ... OMIM:264090
Nmda Receptor Encephalitis
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... ORPHA:217253
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Cartilage-Hair Hypoplasia
Sparse hair, Hepatomegaly, Abnormality of chromosome stability, Sparse eyebrow ORPHA:175
Monosomy 22
Aplasia of the thymus, Micropenis, Hepatosplenomegaly, Hypochromic microcytic anemia, Sarcoma, Sc... ORPHA:96123
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Turner Syndrome Due To Structural X Chromosome Anomalies
Thyroiditis, Growth delay, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Intra... ORPHA:99413
Turner Syndrome
Thyroiditis, Growth delay, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Intra... ORPHA:881
Mosaic Monosomy X
Thyroiditis, Growth delay, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Intra... ORPHA:99228
Monosomy X
Thyroiditis, Growth delay, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Intra... ORPHA:99226
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Micropenis, Decreased circulating total IgM, Severe B lymphocy... ORPHA:83617
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... ORPHA:391487
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Revesz Syndrome
Fine hair, Sparse hair, Abnormality of chromosome stability, Nail dystrophy OMIM:268130
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Truncal obesity, Decreased testicu... OMIM:209900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Decreased circulating total IgA, Decreased circulating total... ORPHA:221139
Truncus Arteriosus
Intrauterine growth retardation, Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortic... ORPHA:3384
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Long penis, Retinal hamartoma, Enlarged p... ORPHA:744
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nbn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nbn.

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

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MGI Allele Allele Type Produced
Nbntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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