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 leukocyte cell number Stk38tm1b(KOMP)Wtsi HET   Early adult 2.50×10-05
preweaning lethality, incomplete penetrance Stk38tm1b(KOMP)Wtsi HOM   Early adult 0.00
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 2.79×10-06
increased heart weight Stk38tm1b(KOMP)Wtsi HET Early adult 2.81×10-05

Download data as:  TSV  XLS

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

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

Anatomy Images Zygosity Mutant Expr
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

MicroCT E18.5

Embryo reconstruction

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electroretinography 2

Rod and cone PDF

3 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
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... 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
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle... ORPHA:319552
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... OMIM:616873
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:606843
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:240500
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
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
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Acute Lung Injury
Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s... ORPHA:178320
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Reticular Dysgenesis
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function OMIM:267500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent otitis m... OMIM:618944
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... OMIM:600501
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... ORPHA:276
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
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
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... OMIM:300946
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hearing impairment, Hypoglycemia OMIM:618838
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Transient Neonatal Diabetes Mellitus
Hearing impairment, Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemi... ORPHA:99886
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... OMIM:243700
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Hodgkin lymphoma, B-cell lymphom... OMIM:300853
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Elev... OMIM:618048
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Anemia, Thromb... ORPHA:848
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interferon-gamma concentration, Increased circulating ferr... ORPHA:540
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec... ORPHA:183675
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Severe cytomegalovir... OMIM:300291
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Elevated circula... OMIM:116920
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Hypoplasia of the thymus, Redu... OMIM:617241
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Decreased circulating IgE, Sepsis, Decreased circulating IgG leve... OMIM:308230
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Immunodeficiency 12
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... OMIM:615468
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy, Sensorineural hearing impairment OMIM:520000
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, De... ORPHA:331206
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Decreased specific anti-polysaccha... OMIM:606367
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
Cinca Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglobin, Hepatosplen... ORPHA:231222
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent... OMIM:613179
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Incre... OMIM:615816
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le... OMIM:620565
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Hypoprot... OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Hepatomegaly OMIM:612840
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment ORPHA:529799
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Progressive hearing impairment, Leukocytosis, Lymph... ORPHA:514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Increa... ORPHA:443811
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Trichothiodystrophy 6, Nonphotosensitive
Bilateral sensorineural hearing impairment, Decreased mean corpuscular volume, Increased HbA2 hem... OMIM:616943
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Increased circulating ferritin concentration, Hyp... ORPHA:158057
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... ORPHA:85435
Dend Syndrome
Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears, Hyperglycemia ORPHA:79134
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Hyponatremia, Recurrent bacterial infections, Hyperka... OMIM:617053
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a... OMIM:300972
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic... ORPHA:98791
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Anemia, Absent bra... ORPHA:90321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... ORPHA:51636
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F OMIM:617101
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Ch├ędiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent respiratory infections, Increased circulating ferri... ORPHA:167
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Vici Syndrome
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, D... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosus, Im... OMIM:614576
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect OMIM:619769
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, N... OMIM:260400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ... ORPHA:470
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... OMIM:608233
Bone Marrow Failure Syndrome 3
Aplastic anemia, Cupped ear, Hearing impairment, Persistence of hemoglobin F, Increased mean corp... OMIM:617052
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Pancreatic And Cerebellar Agenesis
Low-set ears, Secundum atrial septal defect, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellit... OMIM:609069
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus ORPHA:676
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Hypokalemia, Severe cytomegalovirus infection, Recurrent fung... OMIM:619573
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Decreased T cell activation, Hypoplasia of the ovary, Decreased testicu... ORPHA:66628
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Chromomycosis
Recurrent bacterial infections ORPHA:182
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... ORPHA:171929
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormality of thyroid physiology, Abnorma... ORPHA:1830
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Decreased T cell activation, Hypoplasia of the ovary, Decreased testicu... ORPHA:179494
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... OMIM:612541
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Ventricular septal defect, Perime... OMIM:301040
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia OMIM:232220
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Lead Poisoning
Anemia, Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesis, Abnormal T ... ORPHA:330015
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Increased serum bile acid con... ORPHA:69665
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglionic megacolon, Anemia ORPHA:847
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus OMIM:242700
Shwachman-Diamond Syndrome
Hypoamylasemia, Recurrent viral infections, Sepsis, Increased serum bile acid concentration, Recu... ORPHA:811
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Impaired T cell function OMIM:201100
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections OMIM:214500
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology ORPHA:401973
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Immunodeficiency 58
Decreased T cell activation, Verrucae, Decreased specific antibody response to vaccination, Decre... OMIM:618131
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Recurrent bacterial in... ORPHA:79259
Orotic Aciduria
Impaired T cell function OMIM:258900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Leukocyte Adhesion Deficiency
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, BCGosis, Recurrent fungal infe... ORPHA:2968
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia ORPHA:2237
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... ORPHA:56
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of T cell physiology, I... OMIM:181000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
22Q11.2 Deletion Syndrome
Cholelithiasis, Impaired T cell function, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidis... ORPHA:567
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Ovarian cyst, Parathyroid agene... OMIM:188400
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter