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Gene: Trp53 MGI:98834

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Gene Summary

Name:
transformation related protein 53
Synonyms:
p53,  p44

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased large unstained cell number Trp53tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retina morphology Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 1.69×10-07
decreased circulating creatine kinase level Trp53tm1b(EUCOMM)Hmgu HET Early adult 6.22×10-05
persistence of hyaloid vascular system Trp53tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-06
increased startle reflex Trp53tm1b(EUCOMM)Hmgu HOM Early adult 2.39×10-12
preweaning lethality, incomplete penetrance Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Trp53 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 Trp53 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Hereditary Breast And/Or Ovarian Cancer Syndrome
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... ORPHA:145
Breast Cancer
Breast carcinoma OMIM:114480
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Testicular atrophy, Hypogonadism, Pure red cell aplasia, Anemia, Reticular hype... OMIM:618165
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... OMIM:114500
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Glioma Susceptibility 1
Ependymoma, Glioblastoma multiforme, Astrocytoma OMIM:137800
Hepatocellular Carcinoma
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis OMIM:114550
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Melanoma, Colon cancer, Neoplasm of the liver, Breast carcinoma, Ov... ORPHA:1333
Adrenocortical Carcinoma
Hypokalemia, Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Hypertrichosis, Lu... ORPHA:1501
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Splenomegaly, Acute leukemia ORPHA:3318
Nasopharyngeal Carcinoma
Neoplasia of the nasopharynx OMIM:607107
Papilloma Of Choroid Plexus
Neoplasm, Choroid plexus papilloma ORPHA:2807
Osteosarcoma
Weight loss ORPHA:668
Cushing Disease
Leukocytosis, Pituitary corticotropic cell adenoma, Decreased eosinophil count, Lymphopenia, Stri... ORPHA:96253

The table below shows human diseases predicted to be associated to Trp53 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias OMIM:247640
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Verrucae, Basal cell carcinoma OMIM:618267
Desmoid Disease, Hereditary
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis OMIM:135290
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Glioma Susceptibility 9
Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung, Astrocytoma OMIM:616568
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Birt-Hogg-Dube Syndrome
Cutaneous leiomyoma, Renal neoplasm, Renal cell carcinoma, Trichodiscoma, Colon cancer, Multiple ... OMIM:135150
Serrated Polyposis Syndrome
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... ORPHA:157798
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Cutaneous melanoma, Meningioma, Malignant mesothelioma, Uveal melanoma, Lun... OMIM:614327
Retinitis Pigmentosa 42
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... OMIM:612943
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Soft tissue sarcoma ORPHA:2023
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer, Neoplasm of the central nervous system OMIM:603688
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Rhabdomyosarcoma, Sarcoma ORPHA:626
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Schwannomatosis 2
Spinal cord tumor, Schwannoma OMIM:615670
Infantile Myofibromatosis
Abnormal intestine morphology, Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromato... ORPHA:2591
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory anemia with r... OMIM:133180
Hereditary Breast And/Or Ovarian Cancer Syndrome
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... ORPHA:145
Breast Cancer
Breast carcinoma OMIM:114480
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... ORPHA:158057
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia, Acute myeloid leukemia OMIM:252270
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... OMIM:276300
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Familial Melanoma
Melanoma, Neoplasm of the pancreas, Neoplasm of the stomach, Neoplasm of the breast, Abnormal hai... ORPHA:618
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia, Premature graying of hair, Reticular hyperpigmentation, Bone marrow hypocellula... OMIM:619767
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Subependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251639
Ependymoma
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... ORPHA:251636
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Testicular atrophy, Hypogonadism, Pure red cell aplasia, Anemia, Reticular hype... OMIM:618165
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor ORPHA:46532
Desmoid Tumor
Malabsorption, Intestinal obstruction, Fibroma, Gastrointestinal hemorrhage, Neoplasm of the skin... ORPHA:873
Lung Cancer
Alveolar cell carcinoma, Non-small cell lung carcinoma, Lung adenocarcinoma OMIM:211980
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goite... OMIM:180295
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Optic Atrophy 2
Optic atrophy OMIM:311050
Gonadoblastoma
Gonadoblastoma OMIM:424500
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplasm, Multiple myeloma, N... ORPHA:79140
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Schöpf-Schulz-Passarge Syndrome
Alopecia, Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Squamous cell carcinoma, Aplasia/H... ORPHA:50944
Familial Multinodular Goiter
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Multinodular goiter, Colorec... ORPHA:276399
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Nep... OMIM:613029
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteosarcoma OMIM:601811
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Renal cell carcinoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Cuta... OMIM:150800
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Ileus, Anemia, Neoplasm of the pancreas, Neoplasm of the lung, Hep... ORPHA:83469
Schwannomatosis 1
Meningioma, Spinal cord tumor, Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... OMIM:114500
Dyskeratosis Congenita, Autosomal Dominant 2
Oral leukoplakia, Reticulated skin pigmentation, Abnormality of the dentition, Nail dysplasia, Le... OMIM:613989
Gestational Choriocarcinoma
Choriocarcinoma, Neoplasm, Trophoblastic tumor ORPHA:99926
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production, Myelodysplasia OMIM:153550
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma ORPHA:2760
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... ORPHA:220460
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Verrucae, Anal canal squamous carcinoma, B lymphocytopenia, Pne... ORPHA:217390
Familial Adenomatous Polyposis 3
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... OMIM:616415
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... ORPHA:79405
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Brain neoplasm, Breast carcinoma, Colorectal polyposis, Adenomatous colon... ORPHA:447877
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Mismatch Repair Cancer Syndrome 4
Colon cancer, Non-Hodgkin lymphoma, Astrocytoma, Adenomatous colonic polyposis, Glioblastoma mult... OMIM:619101
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Desmoid tumors, Large intestinal polyposis, Adenomatous colonic polyposis, ... ORPHA:247798
Peutz-Jeghers Syndrome
Rectal prolapse, Cervix cancer, Neoplasm of the rectum, Neoplasm, Neoplasm of the lung, Pancreati... ORPHA:2869
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Aplastic anemia, Reticular hyperpigmentation, Bone marrow hypocellularity, Esop... OMIM:224230
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Oncogenic Osteomalacia
Giant cell tumor of bone, Carcinoma, Hypophosphatemia, Neoplasm of head and neck, Hypocalcemia, O... ORPHA:352540
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia, Reticulated skin pigmentation, Testicular atrophy, Bone marrow hypocellularity,... OMIM:613987
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... ORPHA:163634
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Microphthalmia, Isolated 8
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... OMIM:615113
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Schopf-Schulz-Passarge Syndrome
Poroma, Sparse body hair, Basal cell carcinoma, Apocrine hidrocystoma, Nail dystrophy, Sparse hai... OMIM:224750
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... ORPHA:79406
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell activity, Hepatomegaly, Increa... OMIM:308240
Refractory Anemia
Single lineage myelodysplasia, Normocytic anemia, Bone marrow hypocellularity, Myelodysplasia, An... ORPHA:98826
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Anemia, Sideroblastic, 4
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology OMIM:182170
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Hepatic necrosis, Oral leukopl... OMIM:127550
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Adenomatous colonic polyposis, Sparse... ORPHA:401911
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Squamous cell carcin... OMIM:613988
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... OMIM:610069
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Glioma Susceptibility 1
Ependymoma, Glioblastoma multiforme, Astrocytoma OMIM:137800
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Myelodysp... ORPHA:86841
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatitis, Papillary renal cell carci... OMIM:145001
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestin... ORPHA:79501
Retinoblastoma
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Cleft palate, Leiomyosarcoma,... ORPHA:790
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... ORPHA:79411
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Myopathy, Premature graying of hair, Skeletal muscle atrophy, Histiocytoma, Osteosarcoma, Fibrosa... OMIM:112250
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Abnormality of the dentition, Aplastic anemia, Esophageal stenosis, Bone marrow... OMIM:616553
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Ollier Disease
Hemangioma, Neoplasm, Anemia, Visceral angiomatosis, Multiple enchondromatosis, Chondrosarcoma, S... ORPHA:296
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Myelodysplasia, Thrombocytopenia, Neutropenia OMIM:614082
Exostoses, Multiple, Type Ii
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
N Syndrome
Leukemia, Neoplasm, Cryptorchidism OMIM:310465
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Carney Triad
Adrenocortical adenoma, Anemia, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, ... ORPHA:139411
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Teratoma, Pineal
Teratoma OMIM:273120
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Sarcoma ORPHA:66661
Dyskeratosis Congenita, Autosomal Recessive 6
Oral leukoplakia, Premature loss of teeth, Bone marrow hypocellularity, Alopecia, Carious teeth, ... OMIM:616353
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hepatocellular Carcinoma
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis OMIM:114550
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Retinitis Pigmentosa 71
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Cry... OMIM:613990
Familial Colorectal Cancer Type X
Malabsorption, Benign neoplasm of the central nervous system, Urinary tract neoplasm, Basal cell ... ORPHA:440437
Schnitzler Syndrome
Vasculitis, Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthritis, Lymphadenopathy, Lymphoma, ... ORPHA:37748
Phakomatosis Pigmentokeratotica
Hemangioma, Cryptorchidism, Cutaneous melanoma, Patchy alopecia, Renal transitional cell carcinom... ORPHA:2874
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... OMIM:613490
Bazex Syndrome
Neoplasm, Anemia, Yellow nails, Liposarcoma, Nail dystrophy, Lung adenocarcinoma ORPHA:166113
Necrobiosis Lipoidica
Squamous cell carcinoma, Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Reticulated skin pigmentation, Hypomelanotic macule, Abnormality of the ... ORPHA:79397
Familial Adenomatous Polyposis
Biliary tract obstruction, Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocyto... ORPHA:733
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Ataxia-Pancytopenia Syndrome
Distal sensory impairment, Unsteady gait, Ataxia, Anemia, Ankle clonus, Impaired vibration sensat... OMIM:159550
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Hereditary Mixed Polyposis Syndrome
Neoplasm of the rectum, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Hematochezia,... ORPHA:157794
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... ORPHA:523
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Lynch Syndrome
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Flexion contract... ORPHA:144
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpu... OMIM:218670
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Ganglioneuroma
Multiple intestinal neurofibromatosis, Colorectal polyposis, Ganglioneuroma, Hamartomatous polypo... ORPHA:251992
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Gastric Cancer
Stomach cancer OMIM:613659
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Obesity, Dysphagia, Esophageal neoplasm, ... ORPHA:70482
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Budd-Chiari Syndrome
Hepatocellular carcinoma, Budd-Chiari syndrome, Cirrhosis OMIM:600880
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Anemia, Thrombocytopenia, Neoplasm of the central nervous ... ORPHA:69077
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Basal cell carcinoma, Neoplasm of the skin, Flexion contra... OMIM:278760
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... OMIM:615285
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Retinoblastoma
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Pilomatrixoma
Pilomatrixoma OMIM:132600
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Zollinger-Ellison sy... ORPHA:438274
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:250972
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Liposarcoma
Sarcoma ORPHA:69078
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor ORPHA:517
Lymphedema, Primary, With Myelodysplasia
Verrucae, Decreased CD4:CD8 ratio, Leukemia, Myelodysplasia, Pancytopenia, Acute myeloid leukemia OMIM:614038
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Pulmonary fibrosis, Emphysema, Lung adenocarcinoma OMIM:618913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Retinal detachment, Microphthalmia, Optic nerve hypoplasia, Hypoplasia of... OMIM:615181
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse eyelashes, Squamous cell car... OMIM:602540
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Recurrent respiratory infections, Hemolytic anemia, Leukemia, Autoi... OMIM:614470
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Epidermal Nevus Syndrome
Lipoma, Spinal cord tumor, Rhabdomyosarcoma, Weakness of long finger extensor muscles ORPHA:35125
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, P... OMIM:615631
Cronkhite-Canada Syndrome
Sparse body hair, Neoplasm, Patchy alopecia, Colon cancer, Furrowed tongue, Malabsorption, Anemia... ORPHA:2930
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Tumor Predisposition Syndrome 2
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... OMIM:619975
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Abnormality of the liver, Anemia, Intestinal obstruction, Neoplasm of the... ORPHA:44890
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia, Anemia, Premature graying of hair, Bone marrow hypocellularity, Thrombocytopeni... ORPHA:3322
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Primary Erythromelalgia
Leukemia, Recurrent respiratory infections ORPHA:90026
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Hemolytic anemia, Cleft palate, Anal stenosis, Recurrent resp... ORPHA:647
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Abnormality of the dentition, Hypomelanotic macule, Hypermelanotic macul... ORPHA:79399
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Eosinophilia, Familial
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia OMIM:131400
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Esophageal stricture, Basal cell carci... ORPHA:79409
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Myeloid leukemia, Aplastic anemia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pancytopenia OMIM:614743
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Premature ovarian insufficiency, Hypothyroidism, Cafe-au-lait spot, Absent eyelash... OMIM:618625
Cowden Syndrome 7
Hemangioma, Goiter, Papilloma, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Inte... OMIM:616858
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:269600
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Recurrent loss of toenails and fingernails, Dystrophic fingernails, Dystrophic toenail, Oral muco... ORPHA:231568
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... ORPHA:480536
Oral Submucous Fibrosis
Flexion contracture, Oropharyngeal squamous cell carcinoma ORPHA:357154
Septooptic Dysplasia
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Inflammation of the large intestine, Bone marrow hypocellularity, Esophageal st... OMIM:620133
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Refractory anemia, Myelodysplasia, Lymphoma, Monocytosis, Acute myeloid leukemia OMIM:616871
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Vasculitis, Anal atresia, Hemolytic anemi... ORPHA:1572
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Stroke, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, ... ORPHA:444463
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... ORPHA:231401
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar kerat... ORPHA:79402
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Hypoplastic fifth toenail, Punctate palmoplantar hyperkeratosis, Nail dysplasia, Onychogryposis, ... OMIM:131960
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Medulloblastoma
Medulloblastoma OMIM:155255
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Revesz Syndrome
Oral leukoplakia, Nail pits, Aplastic anemia, Fine hair, Bone marrow hypocellularity, Fine, retic... OMIM:268130
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia ORPHA:3319
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia, Pancyto... OMIM:619041
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma, Nail dystrophy OMIM:615225
Turcot Syndrome With Polyposis
Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Basal cell carcinoma, Adenomatous coloni... ORPHA:99818
Werner Syndrome
Meningioma, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteosarcoma, Alopecia of scalp OMIM:277700
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Breast carcinoma, Alopecia, Yellow nails, Oropharyngeal squamous cell carcinoma, Sparse lateral e... OMIM:614564
Werner Syndrome
Cutaneous melanoma, Meningioma, Acral lentiginous melanoma, Pili torti, Sparse scalp hair, Neopla... ORPHA:902
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Recurrent Respiratory Papillomatosis
Atelectasis, Dysphagia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Squamo... ORPHA:60032
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Reduced natural killer cell count, Eosinophilia, Recurrent pn... OMIM:243700
Unclassified Myelodysplastic Syndrome
Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia, Acute myeloid leukemia ORPHA:98827
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Dystrophic fingernails, Macular hyperpigmented dermopathy, Carious teeth, Sca... OMIM:619787
Peutz-Jeghers Syndrome
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm... OMIM:175200
Neurofibromatosis, Type I
Spinal neurofibroma, Optic nerve glioma, Meningioma, Pheochromocytoma, Astrocytoma, Plexiform neu... OMIM:162200
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Onychogryposis of fingernail, Onychogryposis, Dystrophic fingernails, Dystrophic toenail, Fragile... ORPHA:158676
Wt Limb-Blood Syndrome
Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopen... OMIM:194350
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Irregular dentition, Agenesis of permanent teeth, Dystrophic fingernails, Abnormality of dental m... OMIM:602401
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Splenomegaly OMIM:162830
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Hydrocephalus, Chronic neutropenia, Anemia, Thrombocytopenia, Cerebellar hyp... OMIM:619302
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Colon cancer, Duodenal atresia, Muscular dystrophy, Acute lymphoblastic leukemia, Myelo... ORPHA:1052
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Palmoplantar blistering, Ridged nail, Abnormal toenail morphology, Dystrophic toenail, Oral mucos... ORPHA:89838
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Conical tooth, Selective tooth agenesis, Small nail, Absent toenail, Toe syndactyly, Absent thumb... OMIM:124480
Pachyonychia Congenita
Oral leukoplakia, Onychogryposis of fingernail, Palmoplantar blistering, Alopecia, Advanced erupt... ORPHA:2309
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... OMIM:300635
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Decreased testicular size, Abnormality of the dentition, Decreased circulating ... OMIM:620040
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Neoplasm... ORPHA:3261
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Chorioretinal coloboma, Microcephaly, Cerebellar hypoplasia, Optic atroph... ORPHA:163937
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Anemia, Esophageal stricture, Alopecia, Dysphagia, Nail dystrophy, Spontaneo... OMIM:226600
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Hirschsprung Disease
Neoplasm of the thyroid gland, Intestinal obstruction, Functional abnormality of the gastrointest... ORPHA:388
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Opti... ORPHA:1528
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia OMIM:618890
Asbestos Intoxication
Atelectasis, Interlobular septal thickening, Malignant mesothelioma, Pulmonary fibrosis, Pleural ... ORPHA:2302
Yellow Nail Syndrome
Recurrent respiratory infections, Pleuritis, Renal neoplasm, Neoplasm, Biliary tract neoplasm, Ne... ORPHA:662
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... ORPHA:79410
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Microcephaly, Optic nerve hypoplasia OMIM:613638
Primary Myelofibrosis
Hepatosplenomegaly, Hemangioma, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly,... ORPHA:824
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Nijmegen Breakage Syndrome
Anal atresia, Medulloblastoma, Glioma, Recurrent infection of the gastrointestinal tract, Autoimm... OMIM:251260
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Melanoma, Squamous cell carcinoma, Calcinosis, Aplastic anemia, Anemia, Leukemia,... ORPHA:221008
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transamina... OMIM:613313
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Melanoma, Colon cancer, Neoplasm of the liver, Breast carcinoma, Ov... ORPHA:1333
Pachyonychia Congenita 2
Oral leukoplakia, Nail dysplasia, Angular cheilitis, Sparse eyebrow, Dry hair, Natal tooth, Nail ... OMIM:167210
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Dyspnea, Myeloid leukemia, Reticular pattern on pulmonary HRCT, Aplastic anemia, Decreased DLCO, ... OMIM:614742
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Optic... ORPHA:228384
Fanconi Anemia, Complementation Group D1
Anal atresia, Acute myeloid leukemia, T-cell acute lymphoblastic leukemias OMIM:605724
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Rothmund-Thomson Syndrome Type 2
Lymphoma, High palate, Cryptorchidism, Melanoma, Squamous cell carcinoma, Calcinosis, Aplastic an... ORPHA:221016
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... ORPHA:2585
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Malabsorption, Dia... ORPHA:1775
Xeroderma Pigmentosum, Variant Type
Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma OMIM:278750
Optic Atrophy 6
Optic atrophy OMIM:258500
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Chronic neutropenia, Hypoplasia of the pons, Thrombocytopenia, Cerebellar hy... OMIM:619301
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... OMIM:178500
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Weight loss ORPHA:52416
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Torticollis, Uterine neoplasm, Anemia, Neoplasm of the pancreas, Brain neoplasm, Elevat... ORPHA:370348
Muir-Torre Syndrome
Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... ORPHA:587
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Splenomegaly, Hepatitis, Thrombocyt... ORPHA:848
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Camptodactyly of finger, Gingival bleeding, Abnormality of the dentition, Irreg... ORPHA:2907
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... ORPHA:507
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Monosomy 9Q22.3
Cardiac fibroma, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Ovarian fibroma, Basal cel... ORPHA:77301
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosi... ORPHA:369
Hepatorenocardiac Degenerative Fibrosis
Hepatocellular carcinoma, Hepatosplenomegaly, Jaundice, Hepatic bridging fibrosis, Elevated hepat... OMIM:619902
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Malabsorption, Hepatomeg... ORPHA:79301
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Pachyonychia Congenita 1
Onychogryposis, Oral leukoplakia, Palmoplantar hyperkeratosis, Nail dystrophy OMIM:167200
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Venous insufficiency, Arteriovenous malformation, Visceral angioma... ORPHA:137608
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Ovarian fibroma, Hirsutism, Fibrosarcoma, Pleural effusion... ORPHA:314478
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Hyperconvex nail, Cleft palate, Tapered finger, Glossoptosis, Pie... OMIM:311895
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... ORPHA:2442
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Baller-Gerold Syndrome
Lymphoma, Anal atresia, High palate, Anteriorly placed anus, Malabsorption, Cleft palate, Osteosa... ORPHA:1225
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Leukemia, Nephroblastoma OMIM:602501
Epidermolysis Bullosa, Junctional 1A, Intermediate