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Gene: Pinx1 MGI:1919650

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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:
PIN2/TERF1 interacting, telomerase inhibitor 1
Synonyms:
LPTS,  2610028A01Rik,  2210403I16Rik

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 Pinx1 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 Pinx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
N Syndrome
Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... ORPHA:90064
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... OMIM:615631
Liposarcoma
Sarcoma ORPHA:69078
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, T-cell acute lymphoblastic leukemias, Chromosomal breakage ... OMIM:605724
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Meige Disease
Angiosarcoma ORPHA:90186
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of... ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... ORPHA:247806
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Desmoid Tumor
Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid tumors, Neoplasm of the skin... ORPHA:873
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, Anemia ORPHA:163596
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa... ORPHA:49827
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma, Abnormality of the ovary, Hirsutism ORPHA:314478
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... ORPHA:1959
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Abnormality of chromosome stability, Pol... ORPHA:100
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... ORPHA:848
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Fanconi Anemia, Complementation Group S
Chromosome breakage, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Narrow palate, Lo... OMIM:617883
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Sarcoma ORPHA:662
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Lymphoproliferative disorder, Adrenocorticotropic hormone excess OMIM:609981
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... ORPHA:44890
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Peripheral Cone Dystrophy
Pallor OMIM:609021
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Aicardi Syndrome
Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... OMIM:304050
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Pallor,... ORPHA:98870
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Werner Syndrome
Renal neoplasm, Sparse scalp hair, Acral lentiginous melanoma, Abnormal hair whorl, Breast carcin... ORPHA:902
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma OMIM:606764
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombocytopenia, Leu... ORPHA:824
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Malabsorption, Cryptorchidism, Lymphoma, Low a... ORPHA:99812
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, High palate, Hypertrichosis, Hepatosplenomegaly OMIM:619750
Cowden Syndrome 1
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomato... OMIM:158350
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Refractory Anemia
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... ORPHA:98826
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... ORPHA:158057
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... ORPHA:507
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Optic Atrophy 1
Pallor OMIM:165500
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Schopf-Schulz-Passarge Syndrome
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... OMIM:224750
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... OMIM:210900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... OMIM:150800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Laryngeal carcinoma, Decreased testicular size, Carcinoma OMIM:610644
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Pallor ORPHA:90036
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... ORPHA:86839
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia OMIM:613839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... ORPHA:300298
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Nijmegen Breakage Syndrome
Abnormal hair quantity, Abnormality of chromosome stability, Anal stenosis, Glioma, B-cell lympho... ORPHA:647
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma ORPHA:97286
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia OMIM:613390
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hepatosplenomegaly, Gonadal neoplasm, High palate, ... ORPHA:96123
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carcinoma, Squamous cell carc... ORPHA:217390
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Distichiasis, Cleft palate ORPHA:33001
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial hemorrhage, M... ORPHA:3226
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
American Trypanosomiasis
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancreatic steatosis, Cryptorchidism, Nail dystrophy... OMIM:617052
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:600901
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... ORPHA:99880
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... OMIM:614564
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:227650
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... OMIM:191100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... ORPHA:143
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... ORPHA:636
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Sepsis In Premature Infants
Tachycardia, Petechiae, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia, Hypotension, N... ORPHA:90051
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:227645
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... ORPHA:33226
Retinitis Pigmentosa 51
Pallor OMIM:613464
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous me... ORPHA:79409
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp OMIM:618373
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... OMIM:614350
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eyelashes, Myelod... OMIM:305000
Irida Syndrome
Pallor ORPHA:209981
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Anemia ORPHA:329971
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Cowden Syndrome 6
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamar... OMIM:615109
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, Ec... ORPHA:88
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Common Variable Immunodeficiency
Elevated hepatic transaminase, Gastrointestinal stroma tumor, Lymphoma, Abnormality of the liver,... ORPHA:1572
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Esophageal atresia, Annular pancreas, Tracheoesophageal fistula, Deficient excisi... OMIM:227646
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... OMIM:557000
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Chromosome breakage, Esophageal atresia, Biliary atresia OMIM:615272
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Pallor, Hypotension, Thrombocyt... ORPHA:20
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Squamous cell carcinoma, Nail... OMIM:226600
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia OMIM:608068
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Meningioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Reduced circulating prolactin conce... ORPHA:2495
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Dravet Syndrome
Pallor ORPHA:33069
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Papillon-Lefèvre Syndrome
Liver abscess, Squamous cell carcinoma, Melanoma, Nail dystrophy, Neoplasm of the skin, Sparse bo... ORPHA:678
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Squamous cell carcinoma OMIM:243700
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Neutropenia OMIM:609053
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Diamond-Blackfan Anemia 1
Macrocytic anemia, Thrombocytosis, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive ... OMIM:105650
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Beta-Ketothiolase Deficiency
Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis ORPHA:134
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Furrowe... OMIM:148210
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin ORPHA:91355
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... ORPHA:3260
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Fanconi Anemia
Meckel diverticulum, Abnormality of chromosome stability, Aganglionic megacolon, Myelodysplasia, ... ORPHA:84
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Icf Syndrome
Macroglossia, Abnormality of chromosome stability, Malabsorption, Protruding tongue ORPHA:2268
Pituitary Apoplexy
Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Adenohypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95512
Dermatomyositis
Abnormal hair quantity, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung... ORPHA:221
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Squamous cell carcinoma, Fine... OMIM:601675
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fanconi Anemia, Complementation Group B
Esophageal atresia, Abnormality of chromosome stability, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Panhypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95513
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Pallor, Hypotension ORPHA:91349
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
Fanconi Anemia, Complementation Group L
Chromosome breakage, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anal atresia, C... OMIM:614083
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Senior-Loken Syndrome 8
Pallor OMIM:616307
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... ORPHA:261584
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group R
Anal atresia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta... ORPHA:363700
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Aganglionic megacolon, Malabsorption, Sparse e... ORPHA:175
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Revesz Syndrome
Abnormality of chromosome stability, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia OMIM:268130
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test, Chromosomal breakage induc... OMIM:603467
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamous cell carcinoma... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... ORPHA:221008
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive... ORPHA:544482
Fumarase Deficiency
Polycythemia, Pallor OMIM:606812
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... ORPHA:2909
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Prolactinoma
Pallor, Hypotension ORPHA:2965
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia ORPHA:43393
Degcags Syndrome
Tachycardia, Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Pulmonary arterial ... OMIM:619488
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T... ORPHA:3261
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Squamous cell carcinoma, Ankyloglossia, Nail dystrophy, Dystrophic fingernails, Oral ... ORPHA:2907
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Pulmonary arterial hypertension, Pallor, Anemia ORPHA:667
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Kindler Epidermolysis Bullosa
Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... ORPHA:2908
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Esophageal Atresia
Pallor ORPHA:1199
Goodpasture Syndrome
Pallor, Anemia, Pulmonary hemorrhage OMIM:233450
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... OMIM:600376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125

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 Pinx1

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 Pinx1.

No publications found that use IMPC mice or data for Pinx1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pinx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pinx1tm77685(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pinx1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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