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Gene: Bap1 MGI:1206586

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Gene Summary

Name:
Brca1 associated protein 1
Synonyms:
2300006C11Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Bap1em2(IMPC)Marc HET Early adult 8.85×10-19
increased eosinophil cell number Bap1em2(IMPC)Marc HET Early adult 1.39×10-06
preweaning lethality, complete penetrance Bap1em2(IMPC)Marc HOM   Early adult 0.00
preweaning lethality, complete penetrance Bap1tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal vocalization Bap1em2(IMPC)Marc HET Early adult 3.55×10-06
abnormal vibrissa morphology Bap1tm1a(EUCOMM)Hmgu HET   Early adult 6.41×10-06
abnormal bone structure Bap1em2(IMPC)Marc HET   Early adult 1.75×10-05
abnormal auditory brainstem response Bap1em2(IMPC)Marc HET   Early adult 8.75×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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DSS Histology

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

13 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Bap1tm1a(EUCOMM)Hmgu
HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
HET, Male, WTSI

View all 69 images

Bap1tm1a(EUCOMM)Hmgu
mydriasis, HET, Male, WTSI
Bap1tm1a(EUCOMM)Hmgu
corneal opacity, HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
posterior iris synechia, HET, Female, WTSI
Bap1tm1a(EUCOMM)Hmgu
abnormal coat/hair pigmentation, HET, Female, WTSI

Human diseases caused by Bap1 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 Bap1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o... ORPHA:618
Melanoma, Uveal, Susceptibility To, 2
Uveal melanoma OMIM:606661
Meningioma
Neoplasm of the skin, Secondary growth hormone deficiency, Neurofibroma, Increased circulating pr... ORPHA:2495
Uveal Melanoma
Choroidal melanoma, Iris melanoma, Ciliary body melanoma ORPHA:39044
Kury-Isidor Syndrome
Growth delay OMIM:619762
Pleural Mesothelioma
Hepatomegaly ORPHA:50251

The table below shows human diseases predicted to be associated to Bap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
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
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Immunodeficiency 88
Eosinophilia OMIM:619630
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neo... ORPHA:83469
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Streak ovary, Elevated circulat... OMIM:615723
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Sparse body hair, Nail dystrophy, Squamous cell carcinoma, Basal c... OMIM:224750
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o... ORPHA:618
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Odontogenic kerato... ORPHA:314473
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma, Anal canal squamous carc... ORPHA:217390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... ORPHA:79501
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of... OMIM:602540
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... OMIM:278760
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Hirsutism, Abnormal endo... ORPHA:314478
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... OMIM:616858
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,... ORPHA:902
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Fanconi Anemia, Complementation Group S
Long eyelashes, Ovarian carcinoma, Low anterior hairline, Sparse hair, Ovarian neoplasm, Breast c... OMIM:617883
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Actinic keratosis, Nail dystrophy, Oropharyngeal ... OMIM:614564
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Pilomatrixoma
Neoplasm of head and neck, Pilomatrixoma ORPHA:91414
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Pancreat... ORPHA:370348
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n... ORPHA:65285
Familial Pancreatic Carcinoma
Peritoneal abscess, Colon cancer, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, H... ORPHA:1333
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Goiter, Fibroa... OMIM:158350
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Sex reversal ORPHA:85112
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Pilomatrixoma
Pilomatrixoma OMIM:132600
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, Fi... ORPHA:2591
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Osteoporosis, Eosinophilia OMIM:620532
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... ORPHA:2869
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma OMIM:618373
Cinca Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Craniosynostosis, Eosinophilia OMIM:618523
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Wells Syndrome
Eosinophilia ORPHA:901
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Bazex Syndrome
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy OMIM:181600
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Facial palsy OMIM:253600
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Squamous cell carcinoma, Abnormal esophagus morphology, Spontaneous eso... OMIM:226600
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia OMIM:615387
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Renal cell carci... OMIM:193300
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Sparse body hair, Hypertrichosis, Nail dystrophy, Generalized hirsutism, Me... ORPHA:678
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Oral leukoplakia, Furrowed tongue, Nail dystrophy, Sparse eyelashes, ... OMIM:148210
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Cryptorchidism OMIM:613951
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Trichothiodystrophy 1, Photosensitive
Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Intestinal obs... OMIM:601675
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Adrenocorticotropic hormone excess, Mechanical ileus, Ileal adenocar... ORPHA:100079
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Melanoma, Uveal, Susceptibility To, 2
Uveal melanoma OMIM:606661
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnorm... OMIM:175200
Roifman Syndrome
Recurrent otitis media, Eosinophilia, Hepatosplenomegaly, Delayed proximal femoral epiphyseal oss... ORPHA:353298
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin OMIM:620443
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinophilia, Decreased proportion of CD3-positive... ORPHA:169160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Squamous cell carcinoma of the skin, Nail dystrophy, Cryptorchidism, M... OMIM:620365
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... OMIM:600501
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Apert Syndrome
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate ORPHA:87
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Roifman Syndrome
Recurrent otitis media, Eosinophilia, Splenomegaly OMIM:616651
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Squamous cell carcinoma OMIM:243700
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Anteriorly placed anus, Premature graying of hair, Hy... OMIM:268400
Crouzon Syndrome
High palate, Dysgerminoma OMIM:123500
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction OMIM:606764
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Oculocutaneous Albinism Type 1B
Albinism, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Hypopigmentation o... ORPHA:79434
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma OMIM:278720
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Mild neur... ORPHA:443811
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Dyskeratosis Congenita, X-Linked
Alopecia, Oral leukoplakia, Premature graying of hair, Esophageal stricture, Decreased testicular... OMIM:305000
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Rothmund-Thomson Syndrome Type 1
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Hypogonadism, Alopecia totalis, Sparse o... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Alopecia totalis, Sparse or ab... ORPHA:221016
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Ankyloglossia, Squamous cell carcinoma, Abnormal esophagus morphology, Esophageal s... ORPHA:89842
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Bloom Syndrome
Lymphoma, Hypertrichosis, Azoospermia, Cryptorchidism, Squamous cell carcinoma, Leukemia OMIM:210900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Dystrophic toenail, Oral leukoplakia, Ankyloglossia, Nail dystrophy, Dystrophic finge... ORPHA:2907
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Otitis media, Splenomegaly, Ap... OMIM:602450
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Intestinal obstructi... ORPHA:44890
Rothmund-Thomson Syndrome
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Sparse eyebrow, Alopecia totalis, Sparse... ORPHA:2909
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Kid Syndrome
Neoplasm of the skin, Trichilemmoma, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Squamous c... ORPHA:477
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism ORPHA:79431
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eosinophilia, Craniosynostosis, Chronic otitis media ORPHA:2314
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Xeroderma Pigmentosum, Complementation Group B
Cutaneous melanoma, Hypogonadism, Squamous cell carcinoma of the skin, Neoplasm, Basal cell carci... OMIM:610651
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Immunodeficiency 23
Conductive hearing impairment, Lymphopenia, Abscess, Sensorineural hearing impairment, Eosinophil... OMIM:615816
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... OMIM:610755
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Dyskeratosis Congenita, Digenic
Alopecia, Oral leukoplakia, Squamous cell carcinoma of the skin, Decreased testicular size, Nail ... OMIM:620040
Asbestos Intoxication
Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Trichothiodystrophy
High, narrow palate, Gonadal dysgenesis, Tiger tail banding, Alopecia of scalp, Cryptorchidism, D... ORPHA:33364
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous... ORPHA:97261
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Atypical Werner Syndrome
Neoplasm of the skin, Sparse body hair, Neoplasm of the oral cavity, Abnormal hair morphology, Pr... ORPHA:79474
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Phimosis, Squamous cel... ORPHA:2908
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia, Bone cyst ORPHA:400
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous... ORPHA:97278
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia OMIM:617388
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cardiac fibroma, Cryptorchidism, Hypogonadotropic hypogona... ORPHA:377
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Delayed ossification of carpal bones OMIM:617425
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Orthostatic hypotension, Generalized bone dem... ORPHA:199299
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic cysts, Cerebellar hemangioblastoma, Neoplasm of the panc... ORPHA:892
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction ORPHA:97286
Netherton Syndrome
Hypereosinophilia OMIM:256500
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma... ORPHA:97282
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Alopec... ORPHA:273
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Oculocutaneous Albinism Type 2
White hair, Cutaneous melanoma, Squamous cell carcinoma of the skin, White eyebrow, White eyelash... ORPHA:79432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Nail dystrophy, Ovo... OMIM:610644
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Thrombocytopenia,... ORPHA:2686
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Neoplasm, Hepatic steatosis, Low posterior hairline, Micropenis, Hypospadias, Neoplasm ... ORPHA:2959
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Increas... ORPHA:97283
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... ORPHA:1501
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Alveolar Echinococcosis
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Bone cyst, Liver abscess ORPHA:284
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Visceral angiomat... ORPHA:744
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin ORPHA:220295
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Hearing impairment OMIM:158310
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, Abnormal intestine morphology, Enterocoli... ORPHA:391487
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Cutaneous melanoma, Ankyloglossia, Nail dystrophy, Squamous cell carcinoma, Esophag... ORPHA:79408
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Squamous cell carcinoma of the skin, Papillary r... ORPHA:363618
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Facial hypertrichosis, Loss of eyelashes, Squamous cell carcinoma, Scarring... ORPHA:79277
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Oral leukoplakia, Premature graying of hair, Squamous cell carcinoma of the skin, Myelo... OMIM:127550
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Dyskeratosis Congenita
Alopecia, Lymphoma, Abnormal morphology of female internal genitalia, Premature graying of hair, ... ORPHA:1775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Squamous cell carcinoma, Nail dystrophy, Esophageal stricture ORPHA:79404
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Recurrent otitis media, Lymphopenia, Decreased proportion of CD8-... OMIM:301000
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... ORPHA:217253
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Incontinentia Pigmenti
Eosinophilia, Osteolysis ORPHA:464
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Eosinophilia, Abnormality of the brachial nerve plexus ORPHA:449427
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Increas... ORPHA:97280
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Incontinentia Pigmenti
Optic atrophy, Eosinophilia, Leukocytosis OMIM:308300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Juvenile Polyposis Syndrome
Rectocele, Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the pancreas, Juve... ORPHA:2929
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Coccidioidomycosis
Granuloma, Hearing impairment, Abnormality of the spleen, Abscess, Eosinophilia, Osteolysis ORPHA:228123
Ring Chromosome 12 Syndrome
High, narrow palate, Dystrophic toenail, Glandular hypospadias, Breast hypoplasia, Cryptorchidism... ORPHA:1439
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529799
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... ORPHA:99889
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Long eyelashes, Hypopigmentation of hair ORPHA:79430
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Alopecia, Smooth tongue, Nail dystrophy ORPHA:79396
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Oti... ORPHA:906
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Anal atresia, Lymphoma ORPHA:1572
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Sarcoidosis
Leukopenia, Bone cyst, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Facial pal... ORPHA:797
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Dermatomyositis
Alopecia, Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Abnormal hair q... ORPHA:221
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Cutaneous abscess, Eosinophilia, Craniosynostosis, Recurrent cutaneous abscess formation OMIM:147060
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve ORPHA:449563
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... OMIM:133540
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
17Q11 Microdeletion Syndrome
Precocious puberty, Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neur... ORPHA:97685
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Meningioma, Intestinal malrotation, Neoplasm, Cryptorchidism, Pilomatrixoma, Narrow palate, Hypos... ORPHA:353281
Sotos Syndrome
Small cell lung carcinoma, Sparse anterior scalp hair, Neoplasm, Cryptorchidism, Phimosis, Choles... ORPHA:821
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... OMIM:216400
Tetrasomy 9P
Bifid uvula, Absent gallbladder, Cryptorchidism, Pilomatrixoma, Median cleft palate, Oligozoosper... ORPHA:3310
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Gitelman Syndrome
Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Aicardi Syndrome
Precocious puberty, Sparse lateral eyebrow, Metastatic angiosarcoma, Teratoma, Hiatus hernia, Hem... OMIM:304050
Cushing Disease
Lymphopenia, Optic nerve compression, Leukocytosis, Osteoporosis, Decreased eosinophil count ORPHA:96253
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Narrow palate, Meningioma, Intestinal malrotation, Cryptorchid... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Narrow palate, Meningioma, Intestinal malrotation, Cryptorchid... ORPHA:353277
Viss Syndrome
Low-set ears, Cupped ear, Hypereosinophilia, Posteriorly rotated ears, Macrotia OMIM:619472
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Meningioma
Neoplasm of the skin, Secondary growth hormone deficiency, Neurofibroma, Increased circulating pr... ORPHA:2495
Uveal Melanoma
Choroidal melanoma, Iris melanoma, Ciliary body melanoma ORPHA:39044
Kury-Isidor Syndrome
Growth delay OMIM:619762
Pleural Mesothelioma
Hepatomegaly ORPHA:50251

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 Bap1

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 Bap1.

There are 18 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. Cell stem cell (August 2024) Bap1tm2c(EUCOMM)Hmgu 39181129
B-cell intrinsic regulation of antibody mediated immunity by histone H2A deubiquitinase BAP1. Frontiers in immunology (March 2024) Bap1tm1c(EUCOMM)Hmgu PMC10961346
Evidence of sex differences in cancer-related cardiac complications in mouse models of pancreatic and liver cancer. Physiological reports (April 2023) Bap1tm1c(EUCOMM)Hmgu PMC10133859
Modulation of Schwann cell homeostasis by the BAP1 deubiquitinase. Glia (February 2023) Bap1tm1c(EUCOMM)Hmgu 36790040
Genetic screens reveal new targetable vulnerabilities in BAP1-deficient mesothelioma. Cell reports. Medicine (January 2023) Bap1tm2c(EUCOMM)Hmgu PMC9975229
Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system. JCI insight (May 2022) Bap1tm1c(EUCOMM)Hmgu Bap1tm1a(EUCOMM)Hmgu PMC9220848
Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1. Frontiers in immunology (April 2021) Bap1tm1c(EUCOMM)Hmgu PMC8072452
BAP1 is a haploinsufficient tumor suppressor linking chronic pancreatitis to pancreatic cancer in mice. Nature communications (June 2020) Bap1tm1a(EUCOMM)Hmgu PMC7295806
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Bap1tm1a(EUCOMM)Hmgu PMC7263671
Combined deletion of Bap1, Nf2, and Cdkn2ab causes rapid onset of malignant mesothelioma in mice. The Journal of experimental medicine (June 2020) Bap1tm2c(EUCOMM)Hmgu Bap1tm2a(EUCOMM)Hmgu 32271879
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Bap1tm1a(EUCOMM)Hmgu