Gene Summary

Name:
aurora kinase A
Synonyms:
Ark1,  AIRK1,  IAK,  aurora A,  Aurora-A,  IAK1,  Ayk1,  Stk6

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
abnormal bone structure Aurkatm1b(EUCOMM)Hmgu HET Early adult 3.40×10-05
increased mean corpuscular hemoglobin Aurkatm1b(EUCOMM)Hmgu HET   Early adult 9.16×10-05
embryonic lethality prior to organogenesis Aurkatm1b(EUCOMM)Hmgu HOM   E9.5 0.00
sclerocornea Aurkatm1b(EUCOMM)Hmgu HET Early adult 1.34×10-05
preweaning lethality, complete penetrance Aurkatm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased leukocyte cell number Aurkatm1b(EUCOMM)Hmgu HET   Early adult 5.78×10-05
embryonic lethality prior to tooth bud stage Aurkatm1b(EUCOMM)Hmgu HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

18 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

8 Images

Sleep Wake

Wake state (bmp file)

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Aurka 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.

The table below shows human diseases associated to Aurka by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Colorectal Cancer
Uterine leiomyosarcoma, Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Trans... OMIM:114500

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability, Neoplasm OMIM:215510
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Schopf-Schulz-Passarge Syndrome
Poroma, Basal cell carcinoma, Squamous cell carcinoma, Apocrine hidrocystoma OMIM:224750
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Leukemia OMIM:614082
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Dermoids Of Cornea
Corneal opacity OMIM:304730
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Squamous cell carcinoma, Multiple myeloma, Hematological neoplasm, Colon cancer,... ORPHA:158057
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones, Corneal opacity OMIM:277950
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Verrucae, Anal canal squamous carc... ORPHA:217390
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Bloom Syndrome
Squamous cell carcinoma, Leukemia, Lymphoma, Azoospermia, Chromosome breakage, Abnormality of chr... OMIM:210900
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Morquio Syndrome C
Corneal opacity OMIM:252300
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Al-Gazali Syndrome
Sclerocornea, Corneal opacity, Osteopenia OMIM:609465
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Galactosialidosis
Corneal opacity ORPHA:351
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
3Q29 Microduplication Syndrome
Craniosynostosis, Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism, Coronal craniosynostosis ORPHA:2095
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Immunodeficiency 54
Lymphoproliferative disorder, Chromosome breakage, Hepatomegaly OMIM:609981
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Neuroblastoma, Medulloblastoma OMIM:610832
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Normochromic anemia, Hemolytic anemia OMIM:245900
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Abnormal anterior chamber morphology, Hypoplasia of the iris OMIM:613001
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:284160
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Squamous cell carcinoma OMIM:243700
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Werner Syndrome
Gastrointestinal carcinoma, Renal neoplasm, Squamous cell carcinoma, Sarcoma, Melanoma, Breast ca... ORPHA:902
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Ataxia-Telangiectasia
Abnormality of chromosome stability, Elevated hepatic transaminase, Neoplasm ORPHA:100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Fanconi Anemia, Complementation Group S
Breast carcinoma, Chromosome breakage, Ovarian neoplasm OMIM:617883
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Papillon-Lefèvre Syndrome
Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Liver abscess ORPHA:678
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Chromomycosis
Squamous cell carcinoma, Multiple cutaneous malignancies ORPHA:182
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density ORPHA:577
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage, Leukemia OMIM:208910
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Corneal opacity ORPHA:2370
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia, Reduced bone mine... ORPHA:848
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Van Den Ende-Gupta Syndrome
Sclerocornea, Craniosynostosis OMIM:600920
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Lig4 Syndrome
Abnormality of chromosome stability, Hepatomegaly, Lymphoma, Acute leukemia ORPHA:99812
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal osteolysis, Ost... OMIM:166300
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Squamous cell carcinoma OMIM:601675
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Melanoma, Breast carcinoma, Neoplasm, Neoplasm of the lung, Small cell lung carcin... ORPHA:1183
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Meckel Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Aplasia/Hypoplasia of the iris, Asplenia ORPHA:564
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma OMIM:309801
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
Rothmund-Thomson Syndrome Type 1
Squamous cell carcinoma, Leukemia, Melanoma, Osteosarcoma, Basal cell carcinoma, Neoplasm of the ... ORPHA:221008
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma OMIM:148210
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hypoplasia of the iris, Thrombocytopenia ORPHA:290
Rothmund-Thomson Syndrome
Squamous cell carcinoma, Leukemia, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Myelodys... ORPHA:2909
Rothmund-Thomson Syndrome Type 2
Squamous cell carcinoma, Leukemia, Melanoma, Lymphoma, Osteosarcoma, Basal cell carcinoma, Neopla... ORPHA:221016
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Ocular albinism OMIM:614171
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Wolf-Hirschhorn Syndrome
Sclerocornea, Osteoporosis, Megalocornea, Iris coloboma ORPHA:280
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology, Generalized bone demineralization OMIM:215250
Cancer-Associated Retinopathy
Colon cancer, Thymoma, Neoplasm of the breast, Testicular neoplasm, Uterine neoplasm, Small cell ... ORPHA:71505
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Phace Syndrome
Heterochromia iridis, Sclerocornea, Cataract, Lens coloboma, Iris coloboma ORPHA:42775
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea, Abnormality of bone mineral density ORPHA:2741
Sialidosis Type 2
Corneal opacity, Splenomegaly, Osteoporosis ORPHA:87876
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Legius Syndrome
Multiple lipomas, Ovarian neoplasm, Desmoid tumors, Non-small cell lung carcinoma, Acute monocyti... ORPHA:137605
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Kid Syndrome
Trichilemmoma, Neoplasm of the tongue, Neoplasm of the skin, Squamous cell carcinoma ORPHA:477
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Osteoporosis, Increased HbA2 hemoglob... ORPHA:231222
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Rothmund-Thomson Syndrome, Type 2
Osteosarcoma, Squamous cell carcinoma, Basal cell carcinoma OMIM:268400
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Neoplasm OMIM:610651
Dermochondrocorneal Dystrophy
Irregular tarsal ossification, Anterior cortical cataract, Subepithelial corneal opacities, Corne... OMIM:221800
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Corneal opacity, Posterior embryotoxon ORPHA:2556
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Trichothiodystrophy
Squamous cell carcinoma ORPHA:33364
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Fish-Eye Disease
Corneal opacity, Splenomegaly ORPHA:79292
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Squamous cell carcinoma ORPHA:89842
Alpha-Mannosidosis
Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly ORPHA:61
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Osteopenia, Cataract, Corneal opacity ORPHA:309288
Dyskeratosis Congenita, X-Linked
Squamous cell carcinoma, Carcinoma, Acute myeloid leukemia, Hodgkin lymphoma, Myelodysplasia, Cir... OMIM:305000
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Cataract, Corneal opacity, Aplasia/Hypoplasia of the lens, ... ORPHA:649
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Lymphoma, Neoplasm, B-cell lymphoma, Abnormality of chromosome stability, Acute... ORPHA:647
Hereditary Acrokeratotic Poikiloderma
Squamous cell carcinoma, Transitional cell carcinoma of the bladder ORPHA:2907
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Asbestos Intoxication
Lung adenocarcinoma, Malignant mesothelioma ORPHA:2302
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytop... OMIM:188400
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Lcat Deficiency
Corneal opacity, Hemolytic anemia ORPHA:650
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
Yunis-Varon Syndrome
Sclerocornea, Absent sternal ossification, Cataract, Decreased skull ossification ORPHA:3472
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Osteoporosis, Osteopenia ORPHA:2788
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Coarse metaphyseal trabecularization OMIM:618961
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract, Osteopenia OMIM:616603
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Myopic astigmatism OMIM:152950
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Schimke Immunoosseous Dysplasia
Osteopenia, Astigmatism, Thrombocytopenia, Neutropenia, Anemia, Opacification of the corneal stro... OMIM:242900
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Craniosynostosis, Aniridia, Developmental glaucoma ORPHA:1064
Kindler Epidermolysis Bullosa
Squamous cell carcinoma, Neoplasm of the urethra ORPHA:2908
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:600901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227650
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Hepatitis, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma ORPHA:391487
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Oculocutaneous Albinism
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:55
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Erythropoietic Porphyria
Squamous cell carcinoma, Neoplasm of the skin ORPHA:79277
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea, Lambdoidal craniosynostosis OMIM:607932
Oncogenic Osteomalacia
Giant cell tumor of bone, Carcinoma, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neop... ORPHA:352540
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227645
Scheie Syndrome
Corneal opacity OMIM:607016
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Developmental glaucoma, Corneal opacity, Osteoporosis, Megalocornea ORPHA:2409
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Squamous cell carcinoma of the skin, Myelodysplasia OMIM:127550
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Osteoporos... ORPHA:231214
Severe Generalized Junctional Epidermolysis Bullosa
Squamous cell carcinoma ORPHA:79404
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Yunis-Varon Syndrome
Absent sternal ossification, Decreased calvarial ossification, Sclerocornea, Cataract, Decreased ... OMIM:216340
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Squamous cell carcinoma, Cutaneous melanoma ORPHA:79408
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly ORPHA:812
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Rickets OMIM:219900
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Corneal opacity, Neutropenia, Anemia, Lymphopenia, Decr... ORPHA:1830
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia OMIM:301056
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Irregular ossification at anterior rib ends, Neutropenia, A... OMIM:260400
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, B... ORPHA:363618
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Farber Disease
Hepatosplenomegaly, Abnormal conjunctiva morphology, Corneal opacity, Osteoporosis, Anemia, Opaci... ORPHA:333
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Wilson Disease
Kayser-Fleischer ring, Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Cowden Syndrome 1
Subcutaneous lipoma, Carcinoma, Breast carcinoma, Ovarian carcinoma, Meningioma, Hamartomatous po... OMIM:158350
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Zellweger Syndrome
Posterior embryotoxon, Epiphyseal stippling, Cataract, Corneal opacity, Brushfield spots ORPHA:912
Meningioma
Spinal meningioma, Neurofibromas, Chromosomal breakage induced by ionizing radiation, Neoplasm of... ORPHA:2495
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227646
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Corneal opacity, Splenomegaly ORPHA:584
Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93474
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Wilson Disease
Kayser-Fleischer ring, Hemolytic anemia, Osteoporosis, Osteomalacia OMIM:277900
Cystinosis
Corneal opacity, Rickets ORPHA:213
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal osteolysis, Ost... OMIM:259600
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Anemia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:93399
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly ORPHA:585
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity, Osteopenia OMIM:163200
Fanconi Anemia
Abnormality of the liver, Azoospermia, Neoplasm, Abnormality of chromosome stability, Myelodysplasia ORPHA:84
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract, Hepatosplenomegaly ORPHA:93400
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Lung adenocarcinoma, Neoplasm ORPHA:221
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Hepatomegaly ORPHA:175
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Familial Dysautonomia
Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Osteolysis, Corneal erosion ORPHA:1764
Colorectal Cancer
Uterine leiomyosarcoma, Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Trans... OMIM:114500
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Patchy osteosclerosis ORPHA:2323
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia OMIM:256540
Hurler Syndrome
Cranial hyperostosis, Hepatosplenomegaly, Corneal opacity, Splenomegaly, Calvarial hyperostosis, ... OMIM:607014
Gm1 Gangliosidosis
Hepatosplenomegaly, Corneal opacity, Splenomegaly, Coarse metaphyseal trabecularization ORPHA:354
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly OMIM:607015
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Cranial hyperostosis, Craniosynostosis, Hepatosplenomegaly, Osteopenia, Astigmatism... ORPHA:309282
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Pancr... ORPHA:99889
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79430
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Tangier Disease
Hepatosplenomegaly, Anemia, Corneal opacity, Thrombocytopenia ORPHA:31150
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly OMIM:272200
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Corneal opacity ORPHA:582
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Abnormal bone structure, Corneal opacit... ORPHA:355
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin ORPHA:79396
Incontinentia Pigmenti
Eosinophilia, Cataract, Corneal opacity, Osteolysis, Keratitis ORPHA:464
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly OMIM:253220
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma ORPHA:2396
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Focal Dermal Hypoplasia
Hypoplasia of the iris, Ectopia lentis, Corneal opacity, Coarse metaphyseal trabecularization, Ir... ORPHA:2092
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Opacification of the corneal ... ORPHA:581
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Lead Poisoning
Cranial hyperostosis, Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Fabry Disease
Corneal dystrophy, Cataract, Corneal opacity, Conjunctival telangiectasia, Anemia, Reduced bone m... ORPHA:324
Fucosidosis
Corneal opacity ORPHA:349
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Mosaic Trisomy 9
Corneal opacity, Asplenia ORPHA:99776
Sotos Syndrome
Neuroblastoma, Cholesteatoma, Neoplasm, Hemangioma, Sacrococcygeal teratoma, Astrocytoma, Prolong... ORPHA:821
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Osteolysis, Acute lymphoblastic leukemia ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Peters anomaly, Buphthalmos, Megalocornea OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly ORPHA:579
De Barsy Syndrome
Cataract, Corneal opacity, Osteopenia ORPHA:2962
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Osteoporosis ORPHA:488632
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Osteopenia, Corneal opacity, Sagittal craniosynostosis, Megalocornea, I... ORPHA:536471
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Osteoporosis OMIM:615273
Chime Syndrome
Corneal opacity, Osteolysis, Acute leukemia ORPHA:3474
Hurler Syndrome
Corneal opacity, Splenomegaly ORPHA:93473
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Corneal opacity, Osteomalacia, Abnormal pupil morphology, Anemia, Buphthal... ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Hepatosplenomegaly, Corneal opacity, Splenomegaly, Anemia, Abnormality of the splee... ORPHA:2072
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
3Mc Syndrome 3
Corneal opacity OMIM:248340
Larsen Syndrome
Corneal opacity, Multiple carpal ossification centers OMIM:150250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Osteogenesis Imperfecta
Osteopenia, Corneal opacity, Osteoporosis, Decreased skull ossification, Thrombocytopenia, Abnorm... ORPHA:666
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Neurofibromatosis Type 1
Heterochromia iridis, Leukemia, Cataract, Corneal opacity, Lisch nodules, Chronic myelogenous leu... ORPHA:636
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Moebius Syndrome
Corneal opacity ORPHA:570
Mucopolysaccharidosis Type 2
Corneal opacity, Splenomegaly, Abnormal epiphyseal ossification ORPHA:580
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy, Buphthalmos ORPHA:495875
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract, Osteopenia ORPHA:90348
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:217093
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Williams Syndrome
Osteopenia, Increased bone mineral density, Posterior embryotoxon, Cataract, Corneal opacity, Blu... ORPHA:904
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Osteolytic defects of the distal phalanges of the hand, Corneal opacity, Redu... ORPHA:740
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal opacity, Keratitis, Corneal erosion, Conjunctivitis ORPHA:2273
Peters Plus Syndrome
Microcornea, Cataract, Corneal opacity, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Osteopenia ORPHA:3455
Fraser Syndrome 1
Corneal opacity OMIM:219000

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 Aurka

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 Aurka.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Aurora kinase B inhibits aurora kinase A to control maternal mRNA translation in mouse oocytes. Development (Cambridge, England) (October 2021) Aurkatm1c(EUCOMM)Hmgu 34636397
Aurora kinase A is essential for meiosis in mouse oocytes. PLoS genetics (April 2021) Aurkatm1c(EUCOMM)Hmgu PMC8102010

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MGI Allele Allele Type Produced
Aurkatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aurkatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aurkatm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice