Gene Summary

Name:
ATPase family, AAA domain containing 5
Synonyms:
C130052G03Rik,  LOC237877

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Atad5em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Atad5em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

11 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

VIP of left fundus

16 Images

Human diseases caused by Atad5 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 Atad5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Myelodysplasia, Neutropenia, Anemia, Leukemia, Abnormality of chromosome stability OMIM:614082
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
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
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
N Syndrome
Neoplasm, Hypospadias, Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Anemia, Hemangioma, Multiple enchondr... ORPHA:296
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Bazex Syndrome
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin OMIM:194400
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Hepatomegaly, Splenomegaly ORPHA:66661
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Chromosome breakage, Breast carcinoma OMIM:617883
Acquired Hypertrichosis Lanuginosa
Neoplasm, Ovarian neoplasm, Neoplasm of the respiratory system, Neoplasm of the breast ORPHA:2221
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Deficient excision of UV-induced ... OMIM:278760
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt... ORPHA:69077
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Liposarcoma
Sarcoma ORPHA:69078
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ple... ORPHA:314478
Cowden Syndrome 1
Hydrocele testis, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamart... OMIM:158350
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... ORPHA:144
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast ORPHA:65285
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... ORPHA:370348
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Pleural effusion... ORPHA:314473
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Ataxia-Telangiectasia
Neoplasm, Lymphopenia, Abnormal testis morphology, Elevated hepatic transaminase, Polycystic ovar... ORPHA:100
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphoprolif... OMIM:609981
Familial Pancreatic Carcinoma
Neoplasm of the liver, Extrahepatic cholestasis, Breast carcinoma, Melanoma, Hepatosplenomegaly, ... ORPHA:1333
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Neoplasm of the lung, Pleuritis, Biliary tract neoplasm, Bronchiectasis... ORPHA:662
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Mel... OMIM:278740
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... ORPHA:158057
Desmoid Tumor
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma ORPHA:873
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Fanconi Anemia, Complementation Group E
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... OMIM:600901
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Fanconi Anemia, Complementation Group N
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ... OMIM:610832
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Fanconi Anemia, Complementation Group A
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... OMIM:227650
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Bas... OMIM:278720
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Aicardi Syndrome
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Recurr... OMIM:304050
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency ORPHA:1501
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Lymphoma, Pancytopenia, Cryptorchidism, Acute le... ORPHA:99812
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast ORPHA:618
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Neoplasm of the breast, Polyc... ORPHA:457059
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Fanconi Anemia, Complementation Group C
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... OMIM:227645
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... ORPHA:3261
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice ORPHA:33574
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly, Microcytic anemia, Recurrent pneumonia OMIM:619750
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Intestinal carcinoid, Adenoca... ORPHA:100079
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Bloom Syndrome
Chromosome breakage, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Lymph... OMIM:210900
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Basal Cell Nevus Syndrome
Medulloblastoma, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcinoma, Ovarian f... OMIM:109400
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Rec... ORPHA:217390
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... OMIM:232800
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... ORPHA:221
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... OMIM:613254
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma OMIM:112250
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability ORPHA:859
Nijmegen Breakage Syndrome
B-cell lymphoma, Neoplasm, Glioma, Rhabdomyosarcoma, Lymphoma, Thrombocytopenia, Hemolytic anemia... ORPHA:647
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Micropenis, Anemia, Hypergonadotropic hypogonadism, Thrombocytopen... OMIM:227646
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Kasabach-Merritt Syndrome
Tufted angioma, Anemia, Hemangioma, Leukopenia, Reticulocytosis, Hepatic hemangioma, Neutropenia,... ORPHA:2330
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... ORPHA:2869
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... OMIM:224120
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... ORPHA:288
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278700
Crouzon Syndrome
Dysgerminoma OMIM:123500
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Cowden Syndrome
Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopla... ORPHA:201
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Monosomy 22
Aplasia of the thymus, Micropenis, Hepatosplenomegaly, Meningioma, Hypochromic microcytic anemia,... ORPHA:96123
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Apert Syndrome
Ovarian neoplasm ORPHA:87
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Aspiration pneumonia, Abnormality ... ORPHA:1018
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... ORPHA:157794
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice OMIM:162240
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Neoplasm of the skin, Squamous cell carcinoma, Hemolytic ... ORPHA:79277
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Polycythemia... OMIM:193300
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Fibrosarcoma ORPHA:33001
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage, External genital hypoplasia OMIM:613390
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... ORPHA:2126
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... ORPHA:99880
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Precocious puberty, Pheochromocyt... ORPHA:636
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... ORPHA:143
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Long penis, Retinal hamartoma, Enlarged p... ORPHA:744
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Tuberous Sclerosis 1
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... OMIM:191100
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
Atypical Werner Syndrome
Ovarian neoplasm, Renal neoplasm, Neoplasm of the small intestine, Neoplasm of the lung, Neoplasm... ORPHA:79474
Trichothiodystrophy
Recurrent bronchopulmonary infections, Cryptorchidism, Anemia, Gonadal dysgenesis, Increased mean... ORPHA:33364
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... OMIM:175200
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Melanoma, Bilateral cryptorchidism, Gona... OMIM:278800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Squamous cell carcinoma, Recurrent sinusitis, Decreased proportion of CD4-positive ... OMIM:243700
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... ORPHA:273
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Dyskeratosis Congenita, X-Linked
Hodgkin lymphoma, Anemia, Hypospadias, Leukopenia, Cirrhosis, Squamous cell carcinoma, Myelodyspl... OMIM:305000
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ... OMIM:274150
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Cowden Syndrome 6
Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Varicocele, Transit... OMIM:615109
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Cryptorchidism, Anemia, Pancytopenia OMIM:613951
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Lymphopenia, Prostate cancer, De... ORPHA:99889
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Malignant genitourinary tract tumor, Neutropenia, Persistence ... ORPHA:124
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Xeroderma Pigmentosum, Variant Type
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma OMIM:278750
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group B
Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Abnormal lung lobation, Hypogonadism... OMIM:300514
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... ORPHA:652
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Icf Syndrome
Lymphopenia, Abnormality of neutrophils, Anemia, Abnormality of chromosome stability, Recurrent r... ORPHA:2268
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification OMIM:608189
Fanconi Anemia
Neoplasm, Abnormality of the liver, Absent testis, Bicornuate uterus, Abnormal preputium morpholo... ORPHA:84
Nmda Receptor Encephalitis
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... ORPHA:217253
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... ORPHA:139411
Pearson Syndrome
Hypoparathyroidism, Neutropenia, Hepatomegaly, Decreased response to growth hormone stimulation t... ORPHA:699
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Leukopenia, Pneumonia, Chromosomal... OMIM:603467
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the posterior ... ORPHA:2495
Grfoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula... OMIM:609053
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Hemangioma, Transud... ORPHA:284227
Abetalipoproteinemia
Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Elevated hepatic transaminase, Hepatic ... ORPHA:14
Vipoma
Neoplasm of the pancreas, Pituitary adenoma, Neoplasm of the liver, Elevated circulating growth h... ORPHA:97282
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Pituitary adenoma, Elevated circulating gr... ORPHA:97283
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Recurrent upper respiratory tract infections, Leukopenia, B lymphocytopenia, Recurre... ORPHA:508542
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Polyc... ORPHA:892
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Ppoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Micropenis, Hypergonadotropic hypogonadism, Hypospadias, T ly... ORPHA:2959
Fanconi Anemia, Complementation Group Q
Biliary atresia, Chromosome breakage OMIM:615272
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Myelodysplasia, Osteosarcoma, Colon cancer, Thrombocytosis, Neutro... OMIM:105650
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinoma, Jaundice ORPHA:103918
Fanconi Anemia, Complementation Group L
Chromosome breakage, Micropenis, Aplasia of the uterus, Chromosomal breakage induced by crosslink... OMIM:614083
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran... ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Sotos Syndrome
Hydrocele testis, Neoplasm, Neuroblastoma, Prolonged neonatal jaundice, Hemangioma, Hypospadias, ... ORPHA:821
Marburg Hemorrhagic Fever
Orchitis, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Elevated hepatic transaminase,... ORPHA:99826
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... ORPHA:97280
Primary Pigmented Nodular Adrenocortical Disease
Pituitary adenoma, Fibroadenoma of the breast, Testicular neoplasm, Adrenal hyperplasia, Elevated... ORPHA:189439
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Neoplasm of the adrenal cortex, Lymphoma, ... ORPHA:109
Cartilage-Hair Hypoplasia
Anemia, Hepatomegaly, Abnormality of chromosome stability, Neutropenia ORPHA:175
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Dyskeratosis Congenita
Neoplasm of the pancreas, Neoplasm, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Lymph... ORPHA:1775
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... ORPHA:447
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Diamond-Blackfan Anemia 5
Hypospadias, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... ORPHA:363700
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hepatomegaly, Hepatic failure, Pancreatic ... OMIM:557000
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Chromosomal breakage induced by ... ORPHA:420741
Juvenile Polyposis Syndrome
Small intestinal polyposis, Neoplasm of the pancreas, Hepatic arteriovenous malformation, Stomach... ORPHA:2929
Revesz Syndrome
Aplastic anemia, Abnormality of chromosome stability OMIM:268130
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormal reticulocyte morphology ORPHA:2522
Transcobalamin Ii Deficiency
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia OMIM:275350
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia OMIM:613309

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 Atad5

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 Atad5.

No publications found that use IMPC mice or data for Atad5.

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MGI Allele Allele Type Produced
Atad5em1(IMPC)Bay Exon Deletion Mice
Atad5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atad5tm38193(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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