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Gene: Skic3 MGI:2679923

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Gene Summary

Name:
SKI3 subunit of superkiller complex
Synonyms:
Ttc37

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating potassium level Skic3em1(IMPC)Tcp HET Early adult 1.38×10-05
increased freezing behavior Skic3em1(IMPC)Tcp HET Early adult 2.15×10-06
abnormal lens morphology Skic3em1(IMPC)Tcp HET   Early adult 7.53×10-05
preweaning lethality, complete penetrance Skic3em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Skic3em1(IMPC)Tcp HET Early adult 0.00
cataract Skic3em1(IMPC)Tcp HET   Early adult 9.57×10-05
embryonic lethality prior to organogenesis Skic3em1(IMPC)Tcp HOM   E9.5 0.00
increased mean corpuscular hemoglobin concentration Skic3em1(IMPC)Tcp HET   Early adult 2.43×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

102 Images

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Eye Morphology

Images Slit Lamp

132 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Skic3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Skic3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Sple... OMIM:222470
Syndromic Diarrhea
Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Hepatomega... ORPHA:84064

The table below shows human diseases predicted to be associated to Skic3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione... OMIM:618660
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Galactosemia Iv
Hepatomegaly, Cataract, Hypergalactosemia OMIM:618881
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
X-Linked Retinoschisis
Cataract ORPHA:792
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Trichomegaly
Cataract OMIM:190330
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures OMIM:146200
Phenylketonuria
Cataract, Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hipp... OMIM:261600
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Hypokale... OMIM:604278
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome... OMIM:608885
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Anemia, Thrombocytopenia, Hep... ORPHA:848
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Nathalie Syndrome
Cataract OMIM:255990
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... OMIM:611590
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Splenomegaly, Cataract ORPHA:79238
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia, Hyperkalemia OMIM:620366
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... ORPHA:57
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Cataract, Hyperthreoninemia, Eye poking, Hepatomegaly OMIM:204000
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism ORPHA:231183
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Hypergalactosemia ORPHA:570422
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Anemia, Hepatomegaly, Elevated transferri... OMIM:606069
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... OMIM:618314
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Increased level of galactitol in red blood cells, Reduced ... OMIM:230400
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia OMIM:175500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcem... ORPHA:36913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Cataract OMIM:620425
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno... ORPHA:100924
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556030
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia... ORPHA:94093
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Hypoalbuminemia OMIM:618805
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Mirage Syndrome
Microphallus, Lymphopenia, Leukopenia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Anemia... OMIM:617053
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Cataract 48
Cataract OMIM:618415
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... ORPHA:213
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Eye poking OMIM:613835
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Aniridia 3
Cataract, Aniridia OMIM:617142
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration,... OMIM:611489
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Hyperuricemia, Hyponatremia, Salt craving, Decreased urin... ORPHA:95409
Classic Phenylketonuria
Self-injurious behavior, Cataract, Depression, Attention deficit hyperactivity disorder, Hyperphe... ORPHA:79254
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Pseudohypoparathyroidism Type 1B
Cataract, Depression, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, H... ORPHA:94089
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Wagro Syndrome
Cataract, Aniridia, Low frustration tolerance, Emotional lability, Proteinuria, Polyphagia, Aggre... OMIM:612469
Galactokinase Deficiency
Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit... ORPHA:79237
Birk-Landau-Perez Syndrome
Renal hypoplasia, Stage 3 chronic kidney disease, Renal insufficiency, Increased circulating crea... OMIM:617595
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... ORPHA:427
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Alport Syndrome 2, Autosomal Recessive
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Familial Isolated Hypoparathyroidism
Nephropathy, Cataract, Hypocalcemia ORPHA:2238
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 h... ORPHA:231222
Transketolase Deficiency
Self-injurious behavior, Increased level of ribose in urine, Cataract, Elevated circulating ribit... ORPHA:488618
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly,... OMIM:617913
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume OMIM:616943
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Wolfram Syndrome 1
Cataract, Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic an... OMIM:222300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Familial Glucocorticoid Deficiency
Hypernatriuria, Hyponatremia, Anorexia, Renal salt wasting, Hyperkalemia ORPHA:361
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Addictive alcohol use, E... ORPHA:31826
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremia, Salt cr... ORPHA:85138
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia OMIM:602722
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria OMIM:613677
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Polydipsia, Glycosuria, Corneal crystals, Low-molecula... ORPHA:411629
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Alpha-Mannosidosis, Adult Form
Cataract, Depression, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity ORPHA:309288
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Increased c... ORPHA:90791
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Ziegler-Huang Syndrome
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... OMIM:201810
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypernatriuria, Abnormal urine potassium concentration, Hepatosplenomegaly, Hypersp... ORPHA:275761
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Decreased circulating renin level, Hypokalemia... ORPHA:320
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... ORPHA:79102
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:613095
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, ... OMIM:308940
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, Decreased urine ... ORPHA:544482
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Lead Poisoning
Chronic kidney disease, Depression, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol co... ORPHA:330015
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias OMIM:250790
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur... ORPHA:47159
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Polydipsia ORPHA:251274
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Polydipsia, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav... OMIM:612780
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatre... ORPHA:31824
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Catarac... ORPHA:699
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:168558
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag... OMIM:219800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... OMIM:227810
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:289548
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, HbH hemoglobin ORPHA:98791
Cholera
Acute kidney injury, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Decreased urine outpu... ORPHA:173
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As... OMIM:617052
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Persistence of hemoglobin F OMIM:619769
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis OMIM:219090
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... ORPHA:18
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Self... ORPHA:534
Hereditary Fructose Intolerance
Chronic kidney disease, Cataract, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosph... ORPHA:469
Gitelman Syndrome
Hypocalciuria, Polydipsia, Renal magnesium wasting, Enuresis, Hypomagnesemia, Hypokalemia, Salt c... OMIM:263800
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Mercury Poisoning
Hypokalemia, Acute kidney injury, Anorexia ORPHA:330021
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Abnormal hemoglobin, Hydronephrosis, Anemia, Hypoplasia of p... ORPHA:847
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria, Hypokalemia... OMIM:619377
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neut... OMIM:260400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Hypokalemia, Irritability ORPHA:1501
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hydronephrosis, Motor stereotypy, Hypochromic microcytic anemia, Micropenis, Redu... OMIM:301040
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pierson Syndrome
Cataract, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Uveal ectropion... OMIM:609049
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... ORPHA:99867
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Urogenital sinus anomaly, Renal salt wast... ORPHA:90794
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypercalcem... OMIM:601678
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Hypomagnesemia, Renal ... ORPHA:358
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Polydipsia, Increased serum prostaglandin E2, Hypomagnesemia,... OMIM:241200
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydipsia, Hypokalemia, Enlarged ovaries, Increased C-peptide level ORPHA:769
Vipoma
Hypokalemia, Anorexia, Hepatomegaly, Hypercalcemia, Normochromic anemia ORPHA:97282
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee... OMIM:201750
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Hypospadias, Cataract, Abnormal fear-induced behavior, Vesicoureteral re... ORPHA:353281
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Depression OMIM:170390
Scorpion Envenomation
Mydriasis, Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatin... ORPHA:466677
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Methemoglobinemia... ORPHA:56
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, M... ORPHA:90793
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Hypospadias, Cataract, Abnormal fear-induced behavior, Corneal scarring,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Hypospadias, Cataract, Abnormal fear-induced behavior, Corneal scarring,... ORPHA:353277
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... ORPHA:508
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Vascular Ehlers-Danlos Syndrome
Keratoconus, Cystocele, Abnormal pupil morphology, Hypokalemia, Bladder diverticulum, Renovascula... ORPHA:286
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Sple... OMIM:222470
Syndromic Diarrhea
Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Hepatomega... ORPHA:84064

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 Skic3

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 Skic3.

No publications found that use IMPC mice or data for Skic3.

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MGI Allele Allele Type Produced
Skic3em1(IMPC)Tcp Exon Deletion Mice

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