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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
preweaning lethality, complete penetrance Bap1em2(IMPC)Marc HOM   Early adult 0.00
abnormal vocalization Bap1em2(IMPC)Marc HET Early adult 3.55×10-06
increased eosinophil cell number Bap1em2(IMPC)Marc HET Early adult 1.39×10-06
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
preweaning lethality, complete penetrance Bap1tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal auditory brainstem response Bap1em2(IMPC)Marc HET   Early adult 8.75×10-05
increased basophil cell number Bap1em2(IMPC)Marc HET Early adult 8.85×10-19

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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 Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 Images

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DSS Histology

Images

6 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
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Abnormal hair morphology, Neoplasm of the breast ORPHA:618
Melanoma, Uveal, Susceptibility To, 2
Uveal melanoma OMIM:606661
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... ORPHA:2495
Uveal Melanoma
Ciliary body melanoma, Choroidal melanoma, Iris 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
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... ORPHA:206484
Immunodeficiency 88
Eosinophilia OMIM:619630
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ovar... ORPHA:83469
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Neoplasm, Neo... ORPHA:2221
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Cho... OMIM:613762
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Schopf-Schulz-Passarge Syndrome
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... OMIM:224750
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carcinoma, Squamous cell carc... ORPHA:217390
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Ovarian gonadoblastoma OMIM:136680
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Abnormal hair morphology, Neoplasm of the breast ORPHA:618
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal ca... ORPHA:314478
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Fanconi Anemia, Complementation Group S
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... OMIM:617883
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... OMIM:614564
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Cowden Syndrome 1
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomato... OMIM:158350
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous me... ORPHA:79409
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Kimura Disease
Eosinophilia ORPHA:482
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplenomegaly, Extrahepatic cholestas... ORPHA:1333
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Pilomatrixoma
Pilomatrixoma OMIM:132600
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... ORPHA:247806
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Progressive sensorineural hearing im... OMIM:607115
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp OMIM:618373
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess OMIM:147060
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy OMIM:181600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Facial palsy, Eosinophilia OMIM:253600
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Bazex Syndrome
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Squamous cell carcinoma OMIM:243700
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Squamous cell carcinoma, Nail... OMIM:226600
Wells Syndrome
Eosinophilia ORPHA:901
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Melanoma, Uveal, Susceptibility To, 2
Uveal melanoma OMIM:606661
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Papillon-Lefèvre Syndrome
Generalized hirsutism, Squamous cell carcinoma, Melanoma, Nail dystrophy, Neoplasm of the skin, S... ORPHA:678
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongue, Absent pubic hair, Squamous cell c... OMIM:148210
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Squamous cell carcinoma, Fine... OMIM:601675
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Midgut malrotation, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intes... ORPHA:100079
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma OMIM:613951
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... OMIM:617237
Peutz-Jeghers Syndrome
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Esoph... ORPHA:2869
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma OMIM:606764
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula ORPHA:87
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, N... OMIM:620365
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Crouzon Syndrome
High palate, Dysgerminoma OMIM:123500
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Xeroderma Pigmentosum, Complementation Group C
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... ORPHA:79434
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... ORPHA:221008
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamous cell carcinoma... ORPHA:221016
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Pgm3-Cdg
Hemolytic anemia, Mild neurosensory hearing impairment, Abnormal proportion of CD8-positive T cel... ORPHA:443811
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Alopecia, Hypospadias, Sparse eyel... OMIM:305000
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... ORPHA:2909
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Squamous cell carcinoma, Ankyloglossia, ... ORPHA:89842
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Bloom Syndrome
Cryptorchidism, Lymphoma, Squamous cell carcinoma, Azoospermia, Leukemia, Hypertrichosis OMIM:210900
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... OMIM:617100
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Xerostomia, Squamous cell carcinoma, Dystrophic fingernails, Dystr... ORPHA:2907
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Trichilemm... ORPHA:477
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplas... ORPHA:2126
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism ORPHA:79431
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of the skin, Cutaneous mela... OMIM:610651
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Sensorineural hearing impairment, Neutropenia, Conductiv... OMIM:615816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... ORPHA:44890
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous c... OMIM:620040
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Eosinophilia, Craniosynostosis ORPHA:2314
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Cryptorchidism, High, narrow palate, Squamous cell carcinoma, Go... ORPHA:33364
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma ORPHA:97286
Cystic Echinococcosis
Eosinophilia, Abscess, Bone cyst, Splenic cyst, Peritoneal abscess ORPHA:400
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia OMIM:617388
Atypical Werner Syndrome
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... ORPHA:79474
Kindler Epidermolysis Bullosa
Phimosis, Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of... ORPHA:2908
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia OMIM:617425
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Asbestos Intoxication
Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Generalized bone dem... ORPHA:199299
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased respon... ORPHA:273
Netherton Syndrome
Hypereosinophilia OMIM:256500
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Oculocutaneous Albinism Type 2
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... ORPHA:79432
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop... OMIM:610644
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Enlarged poly... ORPHA:744
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Hypospadias, Hypergonadotropic hypogonadism, Low posterior ha... ORPHA:2959
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... ORPHA:3240
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... ORPHA:1501
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Bone cyst, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... ORPHA:97282
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Hearing impairment OMIM:158310
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Villous atrophy, Esophageal carcinoma, Enterocolitis, Abno... ORPHA:391487
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Prem... ORPHA:363618
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Squamous cell carcinoma, Neoplasm of the skin, Fac... ORPHA:79277
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, ... ORPHA:79408
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytope... ORPHA:508533
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Myelodysplasia, Premature graying of hair, Squamous cell carcinoma of the skin, Nail dy... OMIM:127550
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... ORPHA:3260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Alopecia, Abnormal eyebrow morphology, Abnormal eyelash m... ORPHA:1775
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Esophageal stricture, Nail dystrophy, Squamous cell carcinoma ORPHA:79404
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Abnormality of the brachial nerve plexus, Eosinophilia ORPHA:449427
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Incontinentia Pigmenti
Eosinophilia, Osteolysis ORPHA:464
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Incontinentia Pigmenti
Leukocytosis, Optic atrophy, Eosinophilia OMIM:308300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97280
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Granuloma, Hearing impairment ORPHA:228123
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Ring Chromosome 12 Syndrome
Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail... ORPHA:1439
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Malabsorption, Basal cell carcinoma, Long eyelashes, Squamous cell carc... ORPHA:79430
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Dermatomyositis
Abnormal hair quantity, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung... ORPHA:221
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c... ORPHA:99889
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Alopecia, Squamous cell carcinoma of the skin, Smooth tongue ORPHA:79396
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... ORPHA:109
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Sarcoidosis
Hemolytic anemia, Eosinophilia, Facial palsy, Thrombocytopenia, Increased T cell count, Bone cyst... ORPHA:797
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve ORPHA:449563
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Anemia, Macrotia, Abnormality of peripheral n... ORPHA:90321
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... ORPHA:909
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... ORPHA:2929
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Intestinal malrotation, Cryptorchidism, Pilomatrixoma, Spinal cord tumor, Narrow pal... ORPHA:353281
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Tetrasomy 9P
Absent gallbladder, Pilomatrixoma, Cryptorchidism, Cleft palate, Oligozoospermia, High palate, Mi... ORPHA:3310
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Aganglionic megacolon, Phimosis, Small cell lu... ORPHA:821
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Aicardi Syndrome
Hiatus hernia, Precocious puberty, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Met... OMIM:304050
Cushing Disease
Optic nerve compression, Leukocytosis, Osteoporosis, Decreased eosinophil count, Lymphopenia ORPHA:96253
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Intestinal malrotation, Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Intestinal malrotation, Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatri... ORPHA:353277
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Histi... ORPHA:171
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia ORPHA:75565
Viss Syndrome
Posteriorly rotated ears, Cupped ear, Hypereosinophilia, Low-set ears, Macrotia OMIM:619472
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... ORPHA:2495
Uveal Melanoma
Ciliary body melanoma, Choroidal melanoma, Iris 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 15 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
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 PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Bap1tm1a(EUCOMM)Hmgu PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Bap1tm1a(EUCOMM)Hmgu PMC6459510
GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. Cell reports (February 2018) Bap1tm1c(EUCOMM)Hmgu PMC5854482
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Bap1tm1a(EUCOMM)Hmgu PMC5827107
Modeling Renal Cell Carcinoma in Mice: Bap1 and Pbrm1 Inactivation Drive Tumor Grade. Cancer discovery (May 2017) Bap1tm2a(EUCOMM)Hmgu PMC5540776
Loss of BAP1 function leads to EZH2-dependent transformation. Nature medicine (October 2015) Bap1tm1c(EUCOMM)Hmgu Bap1tm1a(EUCOMM)Hmgu PMC4636469
Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis. Proceedings of the National Academy of Sciences of the United States of America (October 2014) Bap1tm2a(EUCOMM)Hmgu PMC4246264

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bap1tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Bap1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Bap1tm78193(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bap1tm78193(pL1L2_GT0_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bap1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Bap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bap1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Bap1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bap1em2(IMPC)Marc Deletion Mice
Bap1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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