Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
COP1, E3 ubiquitin ligase
Synonyms:
Rfwd2,  Cop1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cop1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cop1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hydrops fetalis, Polyhydramnios, Fetal p... OMIM:619462
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:295
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Cervical Cancer
Cervix cancer, Neoplasm OMIM:603956
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Anemia, Hydrops fetalis ORPHA:163596
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Premature birth ORPHA:2123
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Polyhydramnios, Single umbilical artery ORPHA:3405
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Alpha-Thalassemia
Generalized edema, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplen... ORPHA:846
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Weight l... ORPHA:370348
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, ... ORPHA:83469
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Hypermelanotic macule, Ovarian cyst, Multiple gastr... OMIM:175200
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Failure to thrive, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, E... ORPHA:1018
Ring Chromosome 12 Syndrome
Dystrophic toenail, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hirsutism, Hemangio... ORPHA:1439
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Transaldolase Deficiency
Hepatosplenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Edema ORPHA:101028
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly ORPHA:2204
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Irregular hyperpigmentation, Lymphoma, Capillary hemangioma, Meningioma, Thyroi... ORPHA:109
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... ORPHA:217253
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Neonatal death, ... ORPHA:85212
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Hypopigmented skin patches, Cutaneous melanoma, Congenital giant melanocyti... ORPHA:626
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Non... OMIM:266200
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Increased mean corpuscular volume, Extramedullary hematopoiesis, Asci... OMIM:617021
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Piebald Trait
Partial albinism, Neoplasm, White forelock, Absent pigmentation of the ventral chest, Heterochrom... OMIM:172800
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Congenital Enterovirus Infection
Fetal ascites, Fetal distress, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Pleural ... ORPHA:292
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Hypopigmented skin patches, Melanoma, Adenoma... ORPHA:201
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Progressive Osseous Heteroplasia
Sarcoma, Hypermelanotic macule, Abnormality of the parathyroid gland ORPHA:2762
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Splenomegaly, Nonimmune hydrops fetalis OMIM:608540
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hydrops fetalis OMIM:619433
Nephronophthisis
Anemia ORPHA:655
Sialidosis Type 2
Ascites, Hydrops fetalis, Splenomegaly, Pedal edema ORPHA:87876
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Acute leukemia, Cryptorchidism, Testicular seminoma ORPHA:281090
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Premature birth OMIM:269920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hereditary Elliptocytosis
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... ORPHA:288
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Nephroblastoma, Testicular seminoma, Crani... OMIM:180860
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema OMIM:223350
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Congenital Heart Block
Oligohydramnios, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Pericardial e... ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis OMIM:618815
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma OMIM:273300
Piebald Trait-Neurologic Defects Syndrome
Neoplasm of the skin, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow m... ORPHA:2885
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Glycogen Storage Disease Iv
Ascites, Hepatosplenomegaly, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ... ORPHA:90790
Ollier Disease
Precocious puberty, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatos... ORPHA:296
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... OMIM:160980
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Exostoses, Uterine leiomyoma OMIM:616482
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Hirsutism, Abnormal endo... ORPHA:314478
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Infantile Myofibromatosis
Neoplasm of the skin, Irregular hyperpigmentation, Abnormal hair morphology, Benign neoplasm of t... ORPHA:2591
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Piebaldism
Neoplasm of the skin, Hypopigmented skin patches, White forelock, Heterochromia iridis, White eye... ORPHA:2884
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Neuraminidase Deficiency
Facial edema, Ascites, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis OMIM:256550
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Alg8-Cdg
Ascites, Oligohydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Edema, Premature birth ORPHA:79325
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Klippel-Trénaunay Syndrome
Microcytic anemia, Hydrops fetalis, Edema, Ascites ORPHA:90308
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Squamous cell carcinoma of the ski... ORPHA:79434
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Slender build, White forelock, Melanoma, ... ORPHA:902
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... OMIM:619313
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Yellow Nail Syndrome
Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Abnormal fingernail morphology, Fingerna... ORPHA:662
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Pericardial effusion, Hydrops ... OMIM:608776
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Fanconi Anemia, Complementation Group S
Failure to thrive, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Sparse hair, Ovarian... OMIM:617883
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Renal neoplasm, Sarcoma, Neoplasm of the central nervous system ORPHA:69077
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Splenomegaly... OMIM:616843
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, Axillary freckling, T-cell lymphoma, Hypopigmentation of the skin, L... OMIM:276300
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Melanoma, Endometrial carcinoma, Thick eyebrow, Breast carcinoma ORPHA:457212
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Elevated cir... ORPHA:276152
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Neoplasm of the skin, Hypopigmentation of the skin, White hair, Ocular alb... ORPHA:79435
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis OMIM:616897
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Edema, Ascites OMIM:603278
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Cutaneous melanoma, Squamous cel... ORPHA:79432
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly,... OMIM:608013
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Ocular albinism, Squamous cell car... ORPHA:79431
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Teratoma, Pineal
Teratoma OMIM:273120
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Fetal pleural effusion, Nonimmune hydrops fetalis OMIM:620167
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... OMIM:620244
Gastrointestinal Stromal Tumor
Irregular hyperpigmentation, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Clitoral hypertrophy, Long penis, Alopecia, Ambiguous genitalia, female, Poly... ORPHA:90795
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Generalized hyperpigme... ORPHA:361
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Hepatosplenomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios ORPHA:367
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:261344
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Trisomy 13
Hydrops fetalis ORPHA:3378
Galactosialidosis
Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Farber Disease
Ascites, Hepatosplenomegaly, Joint swelling, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:333
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... OMIM:200600
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Thrombocytopenia, Anemia, Hydro... ORPHA:499009
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:269250
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis OMIM:617022
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Legius Syndrome
Inguinal freckling, Axillary freckling, Acute monocytic leukemia, Male urethral meatus stenosis, ... ORPHA:137605
Gm1 Gangliosidosis
Hepatosplenomegaly, Hydrops fetalis, Splenomegaly, Premature birth ORPHA:354
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Hydrops fetalis, Splenomegaly OMIM:230500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Hydrops fetalis, Single umbilical artery ORPHA:1865
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,... OMIM:158350
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial effusion ORPHA:77261
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt... ORPHA:71275
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... OMIM:616959
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Familial Pancreatic Carcinoma
Colon cancer, Pancreatic adenocarcinoma, Ovarian carcinoma, Melanoma, Neoplasm of the liver, Weig... ORPHA:1333
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Nonimmune hydrops fetalis OMIM:620609
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Mosaic Trisomy 9
Oligohydramnios, Single umbilical artery, Polyhydramnios, Asplenia, Hydrops fetalis ORPHA:99776
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neo... OMIM:215140
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thyroid carcinoma, Ovarian cyst, Large cafe-au-lait macules with i... ORPHA:249
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth OMIM:228520
Neurofibromatosis Type 1
Neoplasm of the skin, Hypopigmented skin patches, Cryptorchidism, Multiple lipomas, Leukemia, Sar... ORPHA:636
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia OMIM:618398
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Steinert Myotonic Dystrophy
Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Alopecia, Decreased response to growth h... ORPHA:273
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Orthostatic Hypotension 2
Anemia OMIM:618182
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Thrombocytosis, Pericardial effusion, Abnormality of the amniotic flui... OMIM:212065
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Abnormality of retinal pigmentati... ORPHA:790
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thromb... OMIM:620376
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops... ORPHA:79277
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Splenomegaly OMIM:253220
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hydrops fetalis, Dehydration ORPHA:79282
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... OMIM:620369
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetalis ORPHA:2136
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Corneal stromal edema, Neutropenia, Thrombocytopenia... ORPHA:699
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Pericardial effusion OMIM:235510
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin ORPHA:79329
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Frontal baldi... ORPHA:90794
Nelson Syndrome
Pituitary carcinoma, Increased circulating prolactin concentration, Generalized hyperpigmentation... ORPHA:199244
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Thrombocytop... ORPHA:457077
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Alg9-Cdg
Oligohydramnios, Decreased fetal movement, Thickened nuchal skin fold, Pericardial effusion, Hydr... ORPHA:79328
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Hemolytic anemia, Abnormality of ... ORPHA:95159
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Aplasia of the thymus, Micropenis, Sarcoma, Sparse hair... ORPHA:96123
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Cachexia, Abnorma... ORPHA:744
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Alopecia, Hypopigmentation of the skin, Fair hair, Decreased response to grow... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Alopecia, Hypopigmentation of the skin, Fair hair, Decreased response to grow... ORPHA:363958
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cerebral edema, Hydrops fetalis, Splenic cyst OMIM:620371
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Polyhydramnios, Hydrops fetalis OMIM:300868
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Failure to thrive, Hypertrichosis, Hypoplastic labia minora, Teratoma, Facial hema... OMIM:269150
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Decreased fetal movement OMIM:265000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Abnormality of hair pigmentation, Bilateral cryptorchi... OMIM:618156
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Abnormal hair morphology, Premature graying of... ORPHA:79474
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Duplication Of The Pituitary Gland
Decreased body weight, Teratoma, Abnormal pituitary gland morphology ORPHA:314621
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An... ORPHA:355
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Splenomegaly, Polysplenia OMIM:613610
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Noonan Syndrome 2
Increased nuchal translucency, Polyhydramnios, Nonimmune hydrops fetalis, Leukemia, Acute lymphob... OMIM:605275
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis OMIM:263520
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, Bone-marrow foam cells ORPHA:646
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pleural effusion, Nonimmune hydrops fetalis, Neonatal death, Single umbilical artery, Thickened n... OMIM:265380
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Adrenocorticotropic hormone excess, Ileal adenocarcinoma, Appendicea... ORPHA:100079
Aicardi Syndrome
Precocious puberty, Sparse lateral eyebrow, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepato... OMIM:304050
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:3472
Schinzel-Giedion Syndrome
Annular pancreas, Failure to thrive in infancy, Streak ovary, Ependymoma, Teratoma, Nephroblastom... ORPHA:798
Generalized Arterial Calcification Of Infancy
Fetal distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Apert Syndrome
Ovarian neoplasm ORPHA:87
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Premature birth OMIM:216340

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 Cop1

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 Cop1.

No publications found that use IMPC mice or data for Cop1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cop1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cop1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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