Gene Summary

Name:
RAB5A, member RAS oncogene family
Synonyms:
2410015H04Rik

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
decreased mean corpuscular hemoglobin Rab5atm1b(KOMP)Wtsi HOM   Early adult 1.21×10-05
increased erythrocyte cell number Rab5atm1b(KOMP)Wtsi HOM Early adult 6.81×10-06
abnormal retina morphology Rab5atm1b(KOMP)Wtsi HOM Early adult 2.14×10-05
increased heart weight Rab5atm1b(KOMP)Wtsi HOM   Early adult 2.53×10-05
increased startle reflex Rab5atm1b(KOMP)Wtsi HOM Early adult 3.19×10-10
decreased mean corpuscular volume Rab5atm1b(KOMP)Wtsi HOM   Early adult 2.15×10-05
increased circulating sodium level Rab5atm1b(KOMP)Wtsi HOM Early adult 4.53×10-05
increased circulating potassium level Rab5atm1b(KOMP)Wtsi HOM Early adult 1.33×10-05
decreased grip strength Rab5atm1b(KOMP)Wtsi HOM Early adult 2.10×10-05
abnormal sleep behavior Rab5atm1b(KOMP)Wtsi HOM Early adult 7.56×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

10 Images

Adult LacZ

LacZ Images Section

19 Images

Eye Morphology

Images Ophthalmoscopy

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

6 Images

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Rab5a 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 Rab5a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Pericardial Effusion, Chronic
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis, Polycythemia OMIM:260900
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Polycythemia, Hepatomegaly, Unconjugated hyperbili... OMIM:613280
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circula... ORPHA:94093
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia OMIM:609153
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis, Ventricular septal defect OMIM:615508
Pyruvate Carboxylase Deficiency
Tremor, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic ... ORPHA:3008
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Hyperkalemia, Splenomegaly OMIM:608885
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Hepatomegaly, Thrombocytopenia, Anemia, Splen... ORPHA:848
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Splenomegaly, Anemia, Hypersplenism, Abnormal hemoglobin ORPHA:846
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Anemia of inadequate producti... OMIM:615631
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Leukocytosis ORPHA:83601
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Hemolytic anemia ORPHA:57
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... ORPHA:100924
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Anemia... OMIM:224120
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Polycythemia, Action tremor, Hepatomegaly... ORPHA:309854
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepatosplenome... OMIM:611590
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Ne... ORPHA:1667
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Optic atrophy OMIM:606812
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration... ORPHA:713
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly, Optic atrophy, Hepatosplen... OMIM:611490
Necrotizing Enterocolitis
Abnormal heart morphology, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Mirage Syndrome
Lymphopenia, Hyponatremia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen, Hyperkalemia OMIM:617053
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Tremor, Increase... ORPHA:167
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Anemia, Hyper... ORPHA:542643
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:185000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Poems Syndrome
Thrombocytosis, Pericardial effusion, Polycythemia, Papilledema, Visceromegaly ORPHA:2905
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Thrombocytopenia, H... ORPHA:88673
Whipple Disease
Pericarditis, Hyponatremia, Hepatomegaly, Anemia, Splenomegaly, Myocarditis ORPHA:3452
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Ne... OMIM:618892
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Legionnaires Disease
Endocarditis, Pericarditis, Lymphopenia, Hyponatremia, Splenomegaly, Myocarditis ORPHA:549
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly OMIM:224100
Nephronophthisis 2
Enlarged kidney, Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis OMIM:602088
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Anemia ORPHA:858
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Polycythemia, Papilledema, Retinal detachment, Myocarditis, Macular... ORPHA:892
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Shigellosis
Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Abnormal blood io... ORPHA:810
Hartsfield Syndrome
Hypernatremia OMIM:615465
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Retinal dystrophy OMIM:300653
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hypercalcemia,... ORPHA:95409
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia OMIM:618838
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperhomocystine... ORPHA:2169
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Adenohypophysitis
Normochromic anemia, Hyponatremia ORPHA:95512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Hyponatremia, Autoimmune thrombocytopenia ORPHA:293978
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Hyponatremia, Hypertriglyce... ORPHA:275761
Addison Disease
Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperuricemia, Increased circulating reni... ORPHA:85138
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Liddle Syndrome 3
Hypokalemia OMIM:618126
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagn... OMIM:618183
Pituitary Apoplexy
Normochromic anemia, Hyponatremia ORPHA:95613
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy ORPHA:361
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Panhypophysitis
Normochromic anemia, Hyponatremia ORPHA:95513
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Myocarditis, Hyperk... ORPHA:544482
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Persistence of hemoglobin F, Decr... ORPHA:231214
Japanese Encephalitis
Pill-rolling tremor, Tremor, Hyponatremia, Opisthotonus, Neutrophilia ORPHA:79139
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cardiome... OMIM:618886
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... OMIM:619170
Von Hippel-Lindau Syndrome
Polycythemia, Retinal capillary hemangioma OMIM:193300
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Persistence of hemoglobin F, Decr... ORPHA:231226
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Shwachman-Diamond Syndrome
Abnormal heart morphology, Hypoamylasemia, Chronic neutropenia, Neutropenia, Impaired neutrophil ... ORPHA:811
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevat... OMIM:274150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Holoprosencephaly
Chorioretinal coloboma, Ventricular septal defect, Abnormality of the spleen, Hyponatremia, Abnor... ORPHA:2162
Sheehan Syndrome
Normochromic anemia, Hyponatremia ORPHA:91355
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Atrial septal defect, Pure red... ORPHA:124
Infant Botulism
Hyponatremia ORPHA:178478
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Visceromegaly, Elevated alpha-fetoprotein, Hepatomegaly, Cardiomeg... ORPHA:116
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy OMIM:218030
Cystinosis, Nephropathic
Decreased plasma carnitine, Pigmentary retinopathy, Hypophosphatemic rickets, Retinal pigment epi... OMIM:219800
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Thrombocytopenia, Optic nerve hypoplasia, Dilated cardiomyopathy, Incr... ORPHA:261250
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Liddle Syndrome
Hypokalemia ORPHA:526
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Cardiomyocyte mitochondrial proliferation, Hyperkalemia,... ORPHA:423
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Thyrotoxic Periodic Paralysis
Tremor, Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypoma... ORPHA:79102
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Hypokale... OMIM:615474
Familial Dysautonomia
Optic atrophy, Hyponatremia ORPHA:1764
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Acute Intermittent Porphyria
Tremor, Hyponatremia ORPHA:79276
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy OMIM:604121
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Left ventricular hypert... ORPHA:320
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Chorioretinal dysplasia, Hyponatremia, Thr... ORPHA:534
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Optic atrophy, Narcolepsy, Resting tremor ORPHA:314404
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Dilated cardiomyopathy, Retinal dysplasia, Pulmonic st... OMIM:253800
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Hyponatremia, Thrombocytopenia, Hypersplenism, Splenomegaly, Hepatosplenomegaly,... ORPHA:731
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia OMIM:184850
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Narcolepsy 7
Narcolepsy OMIM:614250
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Action tremor ORPHA:199343
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Acute mye... OMIM:260400
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy ORPHA:251274
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of ... OMIM:268800
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Pigmentary retinopathy, Abnormal heart morphology, Reticulocytosi... ORPHA:699
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Hy... ORPHA:14
Cystinosis
Hypophosphatemia, Hypokalemia, Retinopathy ORPHA:213
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Narcolepsy ORPHA:293987
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Acute myeloid leukemi... ORPHA:2968
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Choriocapillaris atrophy, Anemia OMIM:600376
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bartter Syndrome, Type 3
Increased circulating renin level, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vas... OMIM:607364
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Mercury Poisoning
Tremor, Hypokalemia ORPHA:330021
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:301040
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Anemia ORPHA:847
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Narcolepsy, Intention tremor, Hepatomegaly, Splenomegaly, Hepatos... ORPHA:646
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Intention tremor OMIM:612780
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased HDL cholesterol co... ORPHA:330015
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Bacterial endocardit... ORPHA:97214
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Rabson-Mendenhall Syndrome
Atrial septal defect, Ventricular septal defect, Enlarged ovaries, Increased C-peptide level, Hyp... ORPHA:769
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Cushing Disease
Hypokalemia, Cardiomyopathy ORPHA:96253
Vipoma
Hepatomegaly, Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
African Trypanosomiasis
Tremor, Narcolepsy, Pericarditis, Papilledema, Optic neuritis, Hepatomegaly, Splenomegaly, Myocar... ORPHA:3385
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cherry red spot of the macula, Cardiomyopathy ORPHA:79255
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Pigmentary retinopathy, Abnormal blood ion concentration ORPHA:411629
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tay-Sachs Disease
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response, Optic atrophy, Cherry ... ORPHA:845
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Hypermagnesemia, Pericardial effusion, Hypokalemia, Hypomag... ORPHA:358
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Decreased serum iron,... ORPHA:438213
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy ORPHA:521426
Scorpion Envenomation
Tremor, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concent... ORPHA:466677
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Tsh-Secreting Pituitary Adenoma
Tremor, Hypokalemia, Pericardial effusion ORPHA:91347
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Nelson Syndrome
Hypokalemia, Optic nerve compression ORPHA:199244
Leprechaunism
Enlarged kidney, Enlarged ovaries, Increased circulating renin level, Hepatomegaly, Hypokalemia, ... ORPHA:508
Proximal Renal Tubular Acidosis
Hyperuricosuria, Hypokalemia, Bicarbonaturia, Subvalvular aortic stenosis ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Cushing Syndrome Due To Ectopic Acth Secretion
Hypokalemia ORPHA:99889
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, 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 Rab5a

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 Rab5a.

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

Title Journal IMPC Allele PubMed ID
Rab5a activates IRS1 to coordinate IGF-AKT-mTOR signaling and myoblast differentiation during muscle regeneration. Cell death and differentiation (February 2020) Rab5atm1b(KOMP)Wtsi 32051546
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Rab5atm1b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Rab5atm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Rab5atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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