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Gene: Cop1 MGI:1347046

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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

Order Alleles

IMPC Data Collections

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

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.

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
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... OMIM:619462
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:295
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... ORPHA:2126
Cervical Cancer
Cervix cancer, Neoplasm OMIM:603956
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Neoplasm of the centra... ORPHA:83469
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohydramnios ORPHA:163596
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Hydrops fetalis, Anemia ORPHA:3405
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal cord tumor, Ov... ORPHA:370348
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Complete Androgen Insensitivity Syndrome
Male infertility, Germ cell neoplasia, Sparse axillary hair, Testicular neoplasm, Sparse pubic ha... ORPHA:99429
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... ORPHA:2133
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... ORPHA:157798
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Hirsutism, Glandular hypospadias, Uterine leiomyoma, H... ORPHA:1439
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Failu... ORPHA:1018
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... ORPHA:2221
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Breast carcinoma, Hamartomatous polyposis, Ovari... OMIM:175200
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:101028
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Indomethacin Embryofetopathy
Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Hypogonadism, Acute leukemia ORPHA:281090
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma OMIM:612591
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Multiple cafe-au-lait ... ORPHA:109
Fetal Gaucher Disease
Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Abnormality of the spleen, Splen... ORPHA:85212
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... ORPHA:288
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Silver-Russell Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... OMIM:180860
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ... ORPHA:626
Lynch Syndrome 8
Endometrial carcinoma OMIM:613244
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Gonadoblastoma
Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ... ORPHA:206484
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Fetal pericardial ... OMIM:617021
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Neoplasm, White forelock,... OMIM:172800
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... ORPHA:292
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites, Increased p... ORPHA:1041
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hydrops fetalis OMIM:619433
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites OMIM:232500
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Hypermelanotic macule, Sarcoma ORPHA:2762
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Cho... OMIM:613762
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Nephronophthisis
Anemia ORPHA:655
Sialidosis Type 2
Splenomegaly, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Infantile Sialic Acid Storage Disease
Premature birth, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Ascites OMIM:269920
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618839
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Mast Cell Sarcoma
Weight loss, Sarcoma ORPHA:66661
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Hyperpigmentation of the skin, Male pseudohermaphrodi... ORPHA:90790
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Irregular menstruation, Exostoses OMIM:616482
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c... ORPHA:314478
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Neuraminidase Deficiency
Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Ascites OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia, Oligohydramnios ORPHA:79325
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Klippel-Trénaunay Syndrome
Ascites, Hydrops fetalis, Edema, Microcytic anemia ORPHA:90308
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Melan... ORPHA:79434
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Hydrops fetalis ORPHA:834
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Clitoral hypertrophy, Premature thelarche, Isosexual precocious puberty, Precocious pub... ORPHA:90795
Familial Glucocorticoid Deficiency
Generalized hyperpigmentation, Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor,... ORPHA:361
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... OMIM:616843
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Fanconi Anemia, Complementation Group S
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... OMIM:617883
Achondrogenesis, Type Ii
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema OMIM:200610
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Ataxia-Telangiectasia
Hypopigmentation of hair, Failure to thrive, Polycystic ovaries, Premature graying of hair, Neopl... ORPHA:100
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Weight loss, Sarcoma ORPHA:69077
Yellow Nail Syndrome
Renal neoplasm, Abnormal fingernail morphology, Yellow nails, Neoplasm of the lung, Neoplasm, Ony... ORPHA:662
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Melanoma, Thick eyebrow, Breast carcinoma ORPHA:457212
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Hypopigmentation of the skin, Astrocytoma, Non-Hodgkin lymphoma, Rhabdom... OMIM:276300
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Anemia, Edema OMIM:603278
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Pleural effusion, Ascites OMIM:616897
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Teratoma, Embryonal neoplasm OMIM:273300
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl... ORPHA:3202
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegal... OMIM:608013
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hydrops fetalis, Dehydra... OMIM:557000
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79431
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Nonimmune hydrops fetalis, Fetal pleural effusion OMIM:620167
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Fetal... OMIM:620244
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Hepatosplenomegaly, Ascites ORPHA:367
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Farber Disease
Hydrops fetalis, Hepatosplenomegaly, Anemia, Joint swelling, Ascites, Thrombocytopenia ORPHA:333
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Hypogonadotropic hy... ORPHA:90794
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Trisomy 13
Hydrops fetalis ORPHA:3378
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Proteus Syndrome
Central heterochromia, Neoplasm of the thymus, Neoplasm of the central nervous system, Abnormalit... ORPHA:744
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Nelson Syndrome
Generalized hyperpigmentation, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenoc... ORPHA:199244
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Gm1 Gangliosidosis
Splenomegaly, Premature birth, Hydrops fetalis, Hepatosplenomegaly ORPHA:354
Gm1-Gangliosidosis, Type I
Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis OMIM:230500
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363958
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Hydrops fetalis OMIM:609015
Diamond-Blackfan Anemia
Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Increased placental thickness ORPHA:1865
Gaucher Disease Type 3
Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Thrombocytopenia ORPHA:77261
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Mosaic Trisomy 9
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Oligohydramnios ORPHA:99776
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Legius Syndrome
Inguinal freckling, Acute monocytic leukemia, Non-small cell lung carcinoma, Axillary freckling, ... ORPHA:137605
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic hypogonadism, Choroidal melano... ORPHA:273
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Orthostatic Hypotension 2
Anemia OMIM:618182
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Hepatosplenomegaly ORPHA:79255
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Weight loss, Melanoma, Ovarian carcinoma ORPHA:1333
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iridis, Spinal neurofibr... ORPHA:636
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Splenomegaly, ... ORPHA:79277
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Thrombocytopenia ORPHA:79282
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormality of the amniotic fluid, Thromb... OMIM:212065
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hydrops fetalis OMIM:253220
Retinoblastoma
Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosa... ORPHA:790
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Ascites, Chylothorax, Lymphopenia ORPHA:2136
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Hydrops fetalis, Dehydration, Anemia, Corneal stroma... ORPHA:699
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Lymphedema-Distichiasis Syndrome
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... OMIM:620369
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Pleural effusion OMIM:235510
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Irregular hyperpigmentation, Esophageal neoplasm, Sarcoma ORPHA:44890
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis ORPHA:79329
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leuk... ORPHA:1052
Hepatoerythropoietic Porphyria
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic flu... ORPHA:95159
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Pericardial effusion, Hydrops fetalis, Olig... ORPHA:79328
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Monosomy 22
Aplasia of the thymus, Synophrys, Schwannoma, Gonadal neoplasm, Sparse hair, Micropenis, Meningio... ORPHA:96123
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetalis, Fetal distress OMIM:300868
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypospadias, Abnormality of hair pigmentation, Failure to thrive in inf... OMIM:618156
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hydrops fetalis OMIM:265000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Renal neoplasm, Alopecia,... ORPHA:79474
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Gaucher Disease
Pancytopenia, Splenomegaly, Hydrops fetalis, Anemia, Thrombocytopenia ORPHA:355
Cranioectodermal Dysplasia 2
Splenomegaly, Polyhydramnios, Hydrops fetalis, Polysplenia OMIM:613610
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
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, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites ORPHA:646
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Single umbilical... OMIM:265380
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Adenocarcinoma of the... ORPHA:100079
Yunis-Varon Syndrome
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:3472
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites, Fetal distress ORPHA:51608
Apert Syndrome
Ovarian neoplasm ORPHA:87
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism, Premature ovarian insufficiency ORPHA:91411
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Premature birth, Hydrops fetalis, Polyhydramnios 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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