Gene Summary

Name:
Brca1 associated protein 1
Synonyms:
2300006C11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Bap1em2(IMPC)Marc HOM   Early adult 0.00
preweaning lethality, complete penetrance Bap1tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased basophil cell number Bap1em2(IMPC)Marc HET   Early adult 8.85×10-19
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
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
increased eosinophil cell number Bap1em2(IMPC)Marc HET Early adult 1.39×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Legacy Phenotype Associated Images

View all 69 images

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 predicted to be associated to Bap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, 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
Breast carcinoma, Ovarian carcinoma OMIM:613399
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Multinodular goiter, Pilomatri... ORPHA:276399
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Subependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251639
Ependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251636
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Squamous cell carcinoma, Multinodular goiter OMIM:618373
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
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
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Neoplasm of the breast, ... ORPHA:2221
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Hirsutism, Dysgerminoma, Sparse axillary hair, Hypospadias... OMIM:613762
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma, Nail dystrophy OMIM:613988
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Recurrent sinusitis, Pneumonia, Recurrent respiratory infections, ... ORPHA:217390
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Ovarian Fibroma
Peritonitis, Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, ... ORPHA:314473
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, 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
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Scarring alopecia of scalp, Sparse and thin eyebrow, Squamous cell carcinoma, S... OMIM:602540
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Hirsutism, Abnormality of ... ORPHA:314478
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Fanconi Anemia, Complementation Group S
Low anterior hairline, Sparse hair, Ovarian neoplasm, Long eyelashes, Breast carcinoma, Prominent... OMIM:617883
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Abnormality of the pharynx ORPHA:357154
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm, Breast carcinoma, Pulmonary artery stenosi... ORPHA:902
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm, Trichilemmoma ORPHA:65285
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Neoplasm of the ... ORPHA:1333
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Halothane Hepatitis
Eosinophilia OMIM:234350
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, High palate, Meningioma, ... OMIM:158350
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectas... ORPHA:60032
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Jaundice, Brain neoplasm, Pancreatitis, Ne... ORPHA:370348
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm ORPHA:231632
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Pilomatrixoma
Pilomatrixoma OMIM:132600
Cinca Syndrome
Progressive sensorineural hearing impairment, Leukocytosis, Papilledema, Hearing impairment, Anem... OMIM:607115
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Facial palsy, Eosinophilia OMIM:253600
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Wells Syndrome
Eosinophilia ORPHA:901
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Enlarged polycystic ovaries... ORPHA:2869
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Huriez Syndrome
Nail dystrophy, Squamous cell carcinoma of the skin OMIM:181600
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Osteopenia, Craniosynostosis, Eosinophilia OMIM:147060
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Bazex Syndrome
Yellow nails, Liposarcoma, Neoplasm, Lung adenocarcinoma, Nail dystrophy ORPHA:166113
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Female external genitalia in i... ORPHA:251510
Bloom Syndrome
Cryptorchidism, Azoospermia, Bronchiectasis, Recurrent upper respiratory tract infections, Lympho... OMIM:210900
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Abnormal esophagus morphology, Esophageal stricture, Alopecia... OMIM:226600
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma, Bulbous nose OMIM:613951
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Papillon-Lefèvre Syndrome
Generalized hirsutism, Squamous cell carcinoma, Recurrent respiratory infections, Hypertrichosis,... ORPHA:678
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Osteope... ORPHA:486
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Trichorrhexis nodosa, Sparse hair, Tiger tail banding, Brittle hair, Abnorm... OMIM:601675
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Craniosynostosis, Eosinophilia OMIM:618523
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Ovarian neoplasm, Midgut malrotation, Adrenoco... ORPHA:100079
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma, Abnormal lung morphology ORPHA:182
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Basal Cell Nevus Syndrome
Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Odontogenic keratocy... OMIM:109400
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Gastrointestinal carci... OMIM:175200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thro... ORPHA:98849
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Trichiasis, Furrowed tongue, Sparse and thin eyebrow, Squamous cell carcinoma, ... OMIM:148210
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Bro... ORPHA:1359
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency 49
Posteriorly rotated ears, Lymphopenia, Eosinophilia OMIM:617237
Crouzon Syndrome
Dysgerminoma, Abnormal nasopharynx morphology OMIM:123500
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Apert Syndrome
Narrow palate, Ovarian neoplasm, Choanal atresia, Esophageal atresia, Ectopic anus, Cleft palate,... ORPHA:87
Roifman Syndrome
Hepatosplenomegaly, Delayed proximal femoral epiphyseal ossification, Eosinophilia ORPHA:353298
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Cryptorchidism, Sparse eyebrow, Sparse hair, Premature graying of hair, Abs... OMIM:268400
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Premature ovarian insufficiency, Sparse hai... ORPHA:221008
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Hypopigmentation of hair, Albinism, Squamous cell carcinoma of the skin, Me... ORPHA:79434
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Slender nose, Sparse hair, Aplasia/Hypoplas... ORPHA:221016
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278720
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Conductive hearin... ORPHA:443811
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Cryptorchidism, Myelodysplasia, Premature graying of hair, Carcinoma, Pulmonary... OMIM:305000
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Squamous cel... ORPHA:2909
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Ankyloglossia, Abnormal preputium morphology, Xerostomia, Abnormality of the ur... ORPHA:2907
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Hypopigmentation of hair, Albinism, Squamous cell carcinoma of the skin ORPHA:79431
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Cutaneous melanoma, Neoplasm, Squamous cell carcinoma of the skin, Hypogona... OMIM:610651
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Abnormality of the peritoneum, Neoplasm ... ORPHA:2126
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Esophageal stricture, Colitis, Laryngeal stenos... ORPHA:2908
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Abnormal esophagus morphology, Esophageal stricture, Squamous... ORPHA:89842
Immunodeficiency 23
Hemolytic anemia, Conductive hearing impairment, Lymphopenia, Neutropenia, Sensorineural hearing ... OMIM:615816
Trichothiodystrophy
Cryptorchidism, Tiger tail banding, Recurrent bronchopulmonary infections, Sparse scalp hair, Alo... ORPHA:33364
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97261
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Craniosynostosis, Eosinophilia ORPHA:2314
Oculocutaneous Albinism
Basal cell carcinoma, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyebr... ORPHA:55
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm of the breast, Abnormal hair whorl, Sparse ... ORPHA:79474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Proteus Syndrome
Ovarian neoplasm, Neoplasm, Bronchogenic cyst, Thymus hyperplasia, Lymphangioma, Depressed nasal ... ORPHA:744
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97278
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Delayed ossification of carpal bones, Lymphopenia, Eosinophilia OMIM:617425
Cystic Echinococcosis
Peritoneal abscess, Bone cyst, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Short nose, Odontogenic keratocysts of th... ORPHA:77301
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Myelodysplasia, Sparse hair, Premature graying of hair, Interstitial pneumoniti... OMIM:127550
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma, Nephrobla... ORPHA:99880
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Netherton Syndrome
Hypereosinophilia OMIM:256500
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Steinert Myotonic Dystrophy
Male hypogonadism, Hypergonadotropic hypogonadism, Choroidal melanoma, Endometrial carcinoma, Dec... ORPHA:273
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Nep... ORPHA:143
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Hypopigmentation of hair, White eyebrow, Cutaneous melanoma, White hair, Wh... ORPHA:79432
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, G... ORPHA:97282
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Hepatic steatosis, Neoplasm, Alopecia, Hypospadias, Neoplasm of t... ORPHA:2959
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, E... ORPHA:97283
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Orthostatic hypotension, Normocytic anemia, Eosinophilia, Macr... ORPHA:199299
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cysts, Endolymphatic sac tum... ORPHA:892
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Clitoral hypertrophy, External ge... OMIM:610644
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Craniosynostosis, Sensorineural hearing impairment, Conducti... OMIM:201050
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Sparse hair, Premature graying of hair, Absent eyelashes, Emphysema, Papill... ORPHA:363618
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Esophageal carcinoma, Villous atrop... ORPHA:391487
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Alveolar Echinococcosis
Cutaneous abscess, Bone cyst, Abnormal spleen morphology, Anemia, Liver abscess, Eosinophilia ORPHA:284
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... ORPHA:276152
Scleroderma
Brachial plexus neuropathy, Hypereosinophilia, Osteolytic defects of the phalanges of the hand, F... ORPHA:801
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Squamous cell carcinoma, Facial hypertrichosis, Loss of eyelashes, Ne... ORPHA:79277
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Esophageal stricture, Laryngeal stenosis, Pneumothorax, Abnormality of the upper respi... ORPHA:79404
Adrenocortical Carcinoma
Hypertrichosis, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carci... ORPHA:1501
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Insulinoma, Pituit... ORPHA:652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Cutaneous melanoma, Nail dystrophy, Urethral stricture, Esophageal ulceration, Squ... ORPHA:79408
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Bronchiectasis, Emphysema, Pneumonia, Poster... ORPHA:1572
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Cirrhosis, Abnormal eyebrow morphology, Sparse ... ORPHA:1775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Craniosynostosis, Decreased proportion of CD8-positive T cells, Lymphopenia, D... ORPHA:508533
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Myelofibrosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia... ORPHA:3260
Cushing Syndrome Due To Ectopic Acth Secretion
Generalized hirsutism, Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Thymoma, Sma... ORPHA:99889
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Abnormal respiratory system morphology, Vulvar neoplasm, Tracheobronchial le... ORPHA:1018
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular ... ORPHA:3240
Kid Syndrome
Oral leukoplakia, Cryptorchidism, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:477
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Glucagonoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, E... ORPHA:97280
Igg4-Related Pachymeningitis
Abnormality of the brachial nerve plexus, Abnormality of cervical plexus, Eosinophilia ORPHA:449427
Incontinentia Pigmenti
Leukocytosis, Optic atrophy, Eosinophilia 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
Dermatomyositis
Gastrointestinal stroma tumor, Abnormal hair quantity, Pulmonary fibrosis, Lymphoma, Neoplasm, Ab... ORPHA:221
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Abnormality of the larynx, Bronchomalacia, Laryngomalacia, Abnormal epiglottis morphology, Alopec... ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Coccidioidomycosis
Osteolysis, Granuloma, Hearing impairment, Abnormality of the spleen, Abscess, Eosinophilia ORPHA:228123
Incontinentia Pigmenti
Osteolysis, Eosinophilia ORPHA:464
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Hypopigmentation of hair, Pulmonary fibrosis, Long eyelashes, Squamous cell... ORPHA:79430
Ring Chromosome 12 Syndrome
Cryptorchidism, Hemangioma, Glandular hypospadias, Breast hypoplasia, Uterine leiomyoma, Hirsutis... ORPHA:1439
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Juvenile Polyposis Syndrome
Rectal polyposis, Hamartomatous polyposis, Neoplasm of the gastrointestinal tract, Hemangioblasto... ORPHA:2929
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Short nose, Meningioma, Neoplasm of the breast, Lymphoma, Neoplasm, Uterine neopla... ORPHA:109
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
17Q11 Microdeletion Syndrome
Atypical neurofibromatosis, Plexiform neurofibroma, Breast carcinoma, Precocious puberty, Glomus ... ORPHA:97685
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Eosinophilia, Abnormal fifth cranial nerve morphology ORPHA:449563
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Anemia, Abnormality of periphe... ORPHA:90321
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Sarcoidosis
Hemolytic anemia, Increased T cell count, Bone cyst, Thrombocytopenia, Facial palsy, Anemia, Leuk... ORPHA:797
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Cerebrotendinous Xanthomatosis
Osteoporosis, Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neurop... ORPHA:909
Cockayne Syndrome B
Osteoporosis, Decreased nerve conduction velocity, Abnormality of the pinna, Sensorineural hearin... OMIM:133540
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Aicardi Syndrome
Hiatus hernia, Hemangioma, Recurrent pneumonia, Carcinoma, Teratoma, Sparse lateral eyebrow, Clef... OMIM:304050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Narrow palate, Pilomatrixoma, Intestinal malrotation, Meningioma, Spinal cord tum... ORPHA:353281
Sotos Syndrome
Cryptorchidism, Hemangioma, Sacrococcygeal teratoma, Hydrocele testis, Neuroblastoma, Aganglionic... ORPHA:821
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Tetrasomy 9P
Median cleft lip and palate, Cryptorchidism, Bulbous nose, Pilomatrixoma, Oligospermia, Pulmonary... ORPHA:3310
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Hydrocele testis, Narrow palate, Pilomatrixoma, Laryngeal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Cryptorchidism, Hydrocele testis, Narrow palate, Pilomatrixoma, Laryngeal ... ORPHA:353277
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Meningioma
Neurofibromas, Enlarged pituitary gland, Pituitary hypothyroidism, Neoplasm of the posterior pitu... ORPHA:2495
Uveal Melanoma
Choroidal melanoma, Ciliary body melanoma, Iris melanoma ORPHA:39044
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Pleural effusion, Abnormal lung morphology 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 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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)