Gene Summary

Name:
serine/threonine kinase 38
Synonyms:
5830476G13Rik,  9530097A09Rik,  Ndr1

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
increased fasting circulating glucose level Stk38tm1b(KOMP)Wtsi HET Early adult 1.42×10-05
increased mean corpuscular hemoglobin concentration Stk38tm1b(KOMP)Wtsi HET Early adult 5.73×10-05
abnormal auditory brainstem response Stk38tm1b(KOMP)Wtsi HET   Early adult 2.67×10-06
preweaning lethality, incomplete penetrance Stk38tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased heart weight Stk38tm1b(KOMP)Wtsi HET Early adult 1.17×10-05
increased leukocyte cell number Stk38tm1b(KOMP)Wtsi HET   Early adult 2.50×10-05

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

7 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Stk38 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 Stk38 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... OMIM:615897
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Tegumentary leishmaniasis susceptibility,... ORPHA:319552
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... OMIM:300310
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Decreased... OMIM:608106
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:613502
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... OMIM:612692
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis, Hepatomegaly OMIM:613977
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Recurrent bacterial infections, Decreased circulating IgA level, Incre... OMIM:606843
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... OMIM:616468
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... OMIM:193670
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... OMIM:209920
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... OMIM:607594
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Reticular Dysgenesis
Impaired T cell function, Hypoplasia of the thymus, Lack of T cell function OMIM:267500
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... OMIM:243700
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:618858
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... OMIM:607676
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... ORPHA:2688
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... OMIM:607271
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Recurrent Staphylococcus aureus infections, Decreased circulating antib... ORPHA:572
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hearing impairment, Hypoglycemia OMIM:618838
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Adult Acute Respiratory Distress Syndrome
Sepsis, Abnormal circulating interleukin concentration, Increased circulating interleukin 6 conce... ORPHA:70578
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:606176
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... OMIM:300946
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Lymphopro... OMIM:300853
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level,... OMIM:601495
Thymic Aplasia
Hypocalcemic tetany, Invasive fungal infection, Opportunistic infection, Severe infection, Recurr... ORPHA:83471
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Increased circulating IgA level, Elevated circulating C-reactive ... OMIM:618048
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Hepatomegaly, Thrombocytopenia, Abnormal hemoglobin, Splenom... ORPHA:848
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Decreased circulating IgG level, Decreased circulating total IgM, Severe infe... ORPHA:183675
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... ORPHA:331235
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Increased circulating IgA level, ... OMIM:300291
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Decreased circulating IgE, Recurrent bacteria... OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Cardiomyopathy OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... OMIM:617241
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus OMIM:618856
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent upper and lower ... ORPHA:331206
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis OMIM:617475
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Re... OMIM:606367
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Cinca Syndrome
Anemia, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Eosinophilia, Leukocyto... OMIM:607115
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... ORPHA:169090
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Increased circulating gua... OMIM:613179
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of ... ORPHA:85451
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... ORPHA:486
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:3243
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... OMIM:615816
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Splenomegaly OMIM:612840
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Hypoproteinemia, Recurrent fungal inf... OMIM:603554
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... ORPHA:79330
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Sickle Cell Disease
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Hepatomegaly, Car... OMIM:603903
Acute Monoblastic/Monocytic Leukemia
Anemia, Progressive hearing impairment, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hy... ORPHA:514
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Decreased circulating total IgM, Chronic oral candidiasis, Decreased ci... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:601859
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Immunodeficiency 21
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... OMIM:614172
Pgm3-Cdg
Recurrent fungal infections, Increased circulating IgE level, Recurrent pneumonia, Recurrent bact... ORPHA:443811
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Dilated... ORPHA:231226
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Immunodeficiency 47
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... OMIM:300972
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the e... ORPHA:98791
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Abnormal heart morphology, Leukocytosis, Hyperglycemia, Thrombocyto... ORPHA:391673
Mirage Syndrome
Recurrent urinary tract infections, Hyperkalemia, Recurrent bacterial infections, Hyponatremia, S... OMIM:617053
Dend Syndrome
Thickened ears, Hypsarrhythmia, Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Whim Syndrome
Decreased circulating antibody level, Recurrent pneumonia, Recurrent bacterial infections, Recurr... ORPHA:51636
Cockayne Syndrome Type 1
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... ORPHA:90321
Ch├ędiak-Higashi Syndrome
Recurrent bacterial skin infections, Hypertriglyceridemia, Recurrent streptococcal infections, Re... ORPHA:167
Insulin-Resistance Syndrome Type B
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ovaries... ORPHA:2298
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Vici Syndrome
Decreased circulating IgG2 level, Chronic mucocutaneous candidiasis, Elevated circulating creatin... OMIM:242840
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Microtia, Pure ... ORPHA:124
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Im... OMIM:614576
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hyperbili... ORPHA:542323
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Cupped ear, Overfolded helix, Persistence of hemoglobin F OMIM:617101
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, H... OMIM:260400
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F OMIM:619769
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... OMIM:608233
Pancreatic And Cerebellar Agenesis
Anemia, Secundum atrial septal defect, Optic nerve hypoplasia, Diabetes mellitus, Hypoglycemia, A... OMIM:609069
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:603909
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Decreased circulating ... ORPHA:470
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis ORPHA:676
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Low-set ears, Optic disc pallor, Sensorineural hearing impairment ORPHA:423479
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Hypoplasia of the ovary, Decreased T cell activation, Pituitary hypoth... ORPHA:66628
Immunodeficiency 87 And Autoimmunity
Persistent EBV viremia, Hypertriglyceridemia, Sepsis, Hypokalemia, Recurrent bacterial infections... OMIM:619573
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Chromomycosis
Recurrent bacterial infections ORPHA:182
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Hypoplasia of the ovary, Decreased T cell activation, Pituitary hypoth... ORPHA:179494
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... OMIM:612541
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Abnormal lymphocyte physiology, Lymphoproliferat... ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Ventricular septal defect, Reduced alpha/beta synthesis ratio, ... OMIM:301040
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperuricemia, Hyperlipidemia OMIM:232220
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormality of the autonomic nervous system, Abnormal T cell mor... ORPHA:330015
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Sensorineural hearing impairment, Optic atrophy, Aganglionic megacolon, Abnormal hemoglobin ORPHA:847
Shwachman-Diamond Syndrome
Hypoamylasemia, Recurrent bacterial infections, Increased serum bile acid concentration, Recurren... ORPHA:811
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections OMIM:214500
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Reduced delayed hypersensitivity OMIM:242700
Mend Syndrome
Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morphology, Low-set ears ORPHA:401973
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Impaired T cell function OMIM:201100
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased circulating antibody level, Decrea... OMIM:618131
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Recurrent bacterial infections, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... ORPHA:79259
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:2968
Orotic Aciduria
Impaired T cell function OMIM:258900
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... OMIM:301000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... OMIM:618213
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM, Hypoalbuminemia ORPHA:171
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Cystic Fibrosis
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:586
Heart Defects, Congenital, And Other Congenital Anomalies
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... OMIM:600001
Velocardiofacial Syndrome
Impaired T cell function, Hypoparathyroidism, Cryptorchidism OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Abnormality of T cell physiology, Hypoparathyroidism ORPHA:2237
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Numerous nevi OMIM:176690
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Impaired T c... ORPHA:567
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormal salivary gland morphology, Abnormality of T cell p... OMIM:181000
Digeorge Syndrome
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hydrocele testis, Parathyroid... OMIM:188400
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Stk38

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 Stk38.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ndr kinases regulate retinal interneuron proliferation and homeostasis. Scientific reports (August 2018) Stk38ltm1a(KOMP)Wtsi PMC6105603

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MGI Allele Allele Type Produced
Stk38tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Stk38tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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