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Gene: Atad5 MGI:2442925

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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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 right fundus

16 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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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
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
N Syndrome
Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Neoplasm, Leukemia OMIM:310465
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
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
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... OMIM:616435
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Fanconi Anemia, Complementation Group S
Chromosome breakage, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Anemia OMIM:617883
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Sarcoma ORPHA:66661
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... ORPHA:206484
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Anemia, Neoplasm of the liver, Thrombocyt... ORPHA:69077
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Liposarcoma
Sarcoma ORPHA:69078
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... ORPHA:902
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormality of chromosome stabil... ORPHA:100
Immunodeficiency 54
Chromosome breakage, Recurrent respiratory infections, Hepatomegaly, Lymphoproliferative disorder... OMIM:609981
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... OMIM:278740
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Fanconi Anemia, Complementation Group N
Aplastic anemia, Medulloblastoma, Neuroblastoma, Nephroblastoma, Chromosomal breakage induced by ... OMIM:610832
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... OMIM:613762
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... ORPHA:662
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... OMIM:150800
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell ... OMIM:613951
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278720
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism OMIM:136680
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
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:600901
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Hypoplasia of penis, Pancytopenia, Cryptorchid... ORPHA:99812
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... ORPHA:1333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227650
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma ORPHA:1501
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Aicardi Syndrome
Precocious puberty, Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic ... OMIM:304050
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... OMIM:278700
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... OMIM:210900
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227645
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma, Recurrent pneumonia, Microcytic anemia OMIM:619750
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess... ORPHA:100079
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... ORPHA:221
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... OMIM:610644
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... ORPHA:647
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Precocious puberty, Ependymoma, Gingival... OMIM:613254
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, T lymphocytopenia, Squamous... ORPHA:217390
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Junctional Epidermolysis Bullosa Inversa
Anemia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Neutropenia, Leukopenia, Hepatic hemangioma, Capillary hemangi... ORPHA:2330
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... OMIM:227646
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Late-Onset Junctional Epidermolysis Bullosa
Anemia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... ORPHA:587
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Crouzon Syndrome
Dysgerminoma OMIM:123500
Xeroderma Pigmentosum, Complementation Group D
Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Apert Syndrome
Ovarian neoplasm ORPHA:87
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Cryptorchidism OMIM:613390
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni... ORPHA:79277
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Abnormality of the pulmonary vasculature ORPHA:33001
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovaries... ORPHA:2869
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Melanoma, Defective DNA repair after ultraviolet radiation damage, Gona... OMIM:278800
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Neurofibromatosis Type 1
Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, ... ORPHA:636
Trichothiodystrophy
Cryptorchidism, Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin conc... ORPHA:33364
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:617243
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... ORPHA:744
Atypical Werner Syndrome
Renal neoplasm, Hepatic steatosis, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm... ORPHA:79474
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Vaginal stricture, Anemia ORPHA:79409
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, ... OMIM:618278
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Abnormal lu... OMIM:300514
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonad... ORPHA:273
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Myelody... OMIM:305000
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... ORPHA:157794
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Cowden Syndrome 6
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... OMIM:615109
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia,... ORPHA:124
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni... OMIM:603467
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Hypospadias, Mye... ORPHA:84
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification OMIM:608189
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Redu... ORPHA:2495
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... OMIM:609053
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Hepatic fibrosis, C... ORPHA:14
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Tempi Syndrome
Transudative pleural effusion, Increased hematocrit, Abnormality of the pulmonary vasculature, He... ORPHA:284227
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter, Squamous cell carcinoma OMIM:618373
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Aplasia of the uterus, ... OMIM:614083
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Chromosomal breakage induced ... OMIM:620133
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia... ORPHA:508542
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Hypospadias, Hypergonadotropic hypogonad... ORPHA:2959
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Tropical Pancreatitis
Pancreatic adenocarcinoma, Abnormal pancreatic duct morphology, Pancreatic calcification, Jaundice ORPHA:103918
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... ORPHA:97282
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Azoosp... ORPHA:300298
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorch... ORPHA:821
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in ... ORPHA:99826
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Anemia, Neutropenia ORPHA:175
Benign Schwannoma
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormality of the ... ORPHA:252164
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Acanth... ORPHA:97280
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Abnormality of neutroph... ORPHA:1775
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Chromosom... ORPHA:420741
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia OMIM:268130
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Hypospadias ORPHA:2522
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Pulmon... ORPHA:2929
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, 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.

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
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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