Gene Summary

Name:
claudin 13
Synonyms:
2500004B14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating sodium level Cldn13tm1.1(KOMP)Vlcg HOM Early adult 2.95×10-05
increased hemoglobin content Cldn13tm1.1(KOMP)Vlcg HOM   Early adult 6.51×10-05
increased circulating potassium level Cldn13tm1.1(KOMP)Vlcg HOM Early adult 2.96×10-06
persistence of hyaloid vascular system Cldn13em1(IMPC)J HOM Early adult 4.06×10-05
decreased grip strength Cldn13em1(IMPC)J HOM Early adult 2.49×10-05
decreased mean corpuscular volume Cldn13tm1.1(KOMP)Vlcg HOM Early adult 9.27×10-06
decreased fasting circulating glucose level Cldn13em1(IMPC)J HOM   Early adult 9.56×10-05
increased erythrocyte cell number Cldn13tm1.1(KOMP)Vlcg HOM   Early adult 2.56×10-07
increased circulating alanine transaminase level Cldn13em1(IMPC)J HOM Late adult 5.35×10-05
decreased fasting circulating glucose level Cldn13tm1.1(KOMP)Vlcg HOM Early adult 1.63×10-06
decreased blood urea nitrogen level Cldn13tm1.1(KOMP)Vlcg HOM   Early adult 4.86×10-05

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lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

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

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Lateral Orientation

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Forepaw

22 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Adult LacZ

LacZ Images Section

23 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

22 Images

Embryo LacZ

LacZ images wholemount

12 Images

Sleep Wake

Wake state (bmp file)

7 Images

Auditory Brain Stem Response

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

14 Images

Human diseases caused by Cldn13 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 Cldn13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... OMIM:613673
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Anemia, Hyperuricemia, Hypomagnesemia, Diabetes mellitus, Thrombocytopenia OMIM:613845
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased level of L-glu... ORPHA:3008
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hemolytic anemia, Splenomegaly OMIM:608885
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Congenital Isolated Acth Deficiency
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis OMIM:616649
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Myeloproliferative disorder, Increased erythrocyte protoporphyrin concentration, Ab... ORPHA:100924
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocyto... ORPHA:391673
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Type II diabetes mellitus, Hypoglycemia, Hypokalemia... ORPHA:88673
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypo... OMIM:617053
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Livedoid Vasculopathy
Hyperhomocystinemia, Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Anemia... ORPHA:542643
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... ORPHA:90038
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyce... OMIM:232800
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Hypoglycemia, Normocytic anemia, Hyperuricemia, T... ORPHA:199299
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Polycythemia, Abnormal blood inorganic cation conce... ORPHA:309854
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Normocytic anemia, Hyperuricemia, Increa... ORPHA:95409
Whipple Disease
Anemia, Hyponatremia, Splenomegaly, Insulin resistance ORPHA:3452
Harderoporphyria
Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Reticulo... OMIM:618892
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... ORPHA:288
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, T lymphocytopenia, Anemi... OMIM:619381
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Liddle Syndrome 3
Hypokalemia OMIM:618126
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Abnormal lymphocyte morphology, Recurrent hypoglycemia, Autoimmune thrombocytopenia... ORPHA:293978
Shigellosis
Hyponatremia, Leukocytosis, Hypoglycemia, Splenic abscess, Microangiopathic hemolytic anemia, Thr... ORPHA:810
Poems Syndrome
Polycythemia, Thrombocytosis, Diabetes mellitus ORPHA:2905
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Cholera
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Normocytic anemia, Thiamine-responsive m... ORPHA:85138
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... ORPHA:231222
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemic seizures, Ketotic hypoglycemia ORPHA:361
Porphyria Variegata
Hyponatremia, Anemia, Abnormal circulating porphyrin concentration ORPHA:79473
Pituitary Apoplexy
Hyponatremia, Normochromic anemia, Hypoglycemia ORPHA:95613
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Hartsfield Syndrome
Hypernatremia OMIM:615465
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytop... ORPHA:167
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Rh Deficiency Syndrome
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Macrocytic anemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia ORPHA:90791
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Decreased hemoglobin concentration ORPHA:713
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Increased circulating ferritin concen... OMIM:194380
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... OMIM:235400
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Sheehan Syndrome
Hyponatremia, Normochromic anemia, Hypoglycemia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Diabetes mellitus, Hypocalcemia, Thrombocytopenia, Hemo... ORPHA:544482
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hypercholeste... ORPHA:275761
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Panhypophysitis
Hyponatremia, Normochromic anemia ORPHA:95513
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypocholesterolemia, Recurrent hypoglycemia, Hypoalbuminemia, Th... ORPHA:79324
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia OMIM:175500
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemo... ORPHA:231226
Liddle Syndrome
Hypokalemia ORPHA:526
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly... ORPHA:231214
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Infant Botulism
Hyponatremia ORPHA:178478
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Hereditary Spherocytosis
Anemia, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesis, Increased mean corpuscula... ORPHA:822
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... ORPHA:289548
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Hypoglycemia, Diabetes mellitus ORPHA:2162
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Beckwith-Wiedemann Syndrome
Hypoglycemia, Polycythemia, Splenomegaly, Neonatal hypoglycemia, Elevated alpha-fetoprotein ORPHA:116
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... ORPHA:340
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:227810
Cystinosis, Nephropathic
Hyponatremia, Glycosuria, Splenomegaly, Diabetes mellitus, Decreased plasma carnitine, Hypophosph... OMIM:219800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Anemia, Hypercholesterolemia, Thrombocytopenia, Hypo... ORPHA:534
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... ORPHA:2968
Familial Dysautonomia
Hyponatremia ORPHA:1764
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Cystinosis
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia ORPHA:213
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Anemia, Hypokalemia OMIM:619377
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Hyperspl... ORPHA:731
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Pearson Syndrome
Neutropenia, Hypokalemia, Hypophosphatemia, Anemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, ... ORPHA:699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia, Neonatal hypoglycemia ORPHA:90794
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... ORPHA:769
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia ORPHA:293987
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... ORPHA:3337
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Hypokalemia OMIM:219090
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Iron deficiency an... ORPHA:358
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Vipoma
Hypercalcemia, Normochromic anemia, Diabetes mellitus, Hypokalemia ORPHA:97282
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Leukopenia, Elevated circulating creatine kinase conc... ORPHA:99826
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia, Lymphop... OMIM:619573
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Adrenocortical Carcinoma
Diabetes mellitus, Hypokalemia ORPHA:1501
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Glycosuria, Abnormal blood ion concentration ORPHA:411629
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Mercury Poisoning
Hypokalemia ORPHA:330021
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... ORPHA:79277
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Leprechaunism
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Recurrent infantile hypoglycemia, Increase... ORPHA:508
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia ORPHA:786
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia, Abnorma... ORPHA:97214
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Nelson Syndrome
Type II diabetes mellitus, Hypokalemia ORPHA:199244
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Increased ... ORPHA:466677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Glycosuria, Hyperuricosuria ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Norrie Disease
Optic atrophy, Ectopia lentis, Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vas... ORPHA:649
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma OMIM:619539
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

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 Cldn13

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 Cldn13.

No publications found that use IMPC mice or data for Cldn13.

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MGI Allele Allele Type Produced
Cldn13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cldn13tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cldn13em1(IMPC)J Indel Mice
Cldn13tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cldn13tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Cldn13tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cldn13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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