Gene Summary

Name:
mitochondrial ribosomal protein S25
Synonyms:
Rpms25,  2810429N01Rik

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
preweaning lethality, complete penetrance Mrps25tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased heart weight Mrps25tm1.1(KOMP)Vlcg HET Early adult 7.15×10-06
embryonic lethality prior to organogenesis Mrps25tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased circulating glucose level Mrps25tm1.1(KOMP)Vlcg HET   Early adult 9.63×10-05
embryonic lethality prior to tooth bud stage Mrps25tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased circulating sodium level Mrps25tm1.1(KOMP)Vlcg HET Early adult 4.38×10-05
decreased circulating calcium level Mrps25tm1.1(KOMP)Vlcg HET Early adult 3.21×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Forepaw

11 Images

Sleep Wake

Wake state (bmp file)

4 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Mrps25 mutations

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

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

The table below shows human diseases associated to Mrps25 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 50
OMIM:619025

The table below shows human diseases predicted to be associated to Mrps25 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalc... OMIM:612526
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia OMIM:620152
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Adamantinoma
Hypercalcemia ORPHA:55881
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:240200
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ethanolaminosis
Cardiomegaly OMIM:227150
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Low plasma citrulline, Hyper... OMIM:615751
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures, Hyperkalemia ORPHA:199296
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Hypocalcemia, Cardiomegaly,... OMIM:601005
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:604765
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly, Hypoglycemia OMIM:609016
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Hepatomegaly, Elevated plasma citrulline, Inc... ORPHA:3008
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:614736
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypoalbuminemia OMIM:615508
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Neuroleptic Malignant Syndrome
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... ORPHA:94093
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Atrial septal defect, Increased C-peptide level, Hypoglycemic seizures, Hyperinsu... OMIM:620211
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Propionic Acidemia
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia ORPHA:35
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hyponatremia, Hypoglycemia OMIM:608688
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, E... ORPHA:26793
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Intermediate Osteopetrosis
Hepatosplenomegaly, Hypocalcemia ORPHA:210110
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypon... ORPHA:31824
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypoglycemia ORPHA:173
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia OMIM:613845
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Double... ORPHA:3426
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Hypocalcemia ORPHA:1563
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hyp... OMIM:600649
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Hypocalcemia, Hypoketotic hypoglycemia, Left ventricular hypertrophy ORPHA:746
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... OMIM:615160
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypoalbum... OMIM:618183
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Abnormal heart morphology ORPHA:391673
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Hepatomegaly, Increased total bilirubin... OMIM:267700
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia, Hypoglycemia OMIM:607143
Glycogen Storage Disease Ixb
Hepatomegaly, Hyperuricemia, Hypoglycemia, Splenomegaly OMIM:261750
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypomagnesemia, Pericardial effusion, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Wolcott-Rallison Syndrome
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Atrial septal defect, Hepatomegaly,... ORPHA:1667
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:259700
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic... ORPHA:411634
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Familial Glucocorticoid Deficiency
Hyponatremia, Hypoglycemic seizures, Hyperkalemia, Hypertrophic cardiomyopathy, Ketotic hypoglycemia ORPHA:361
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia ORPHA:73224
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splenomegaly OMIM:235255
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... OMIM:231100
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Aortic valve steno... ORPHA:2306
Whipple Disease
Myocarditis, Hepatomegaly, Splenomegaly, Insulin resistance, Pericarditis, Hyponatremia ORPHA:3452
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hyponatremia, Hypercalcemia ORPHA:199299
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Hypertriglyceridemi... OMIM:603553
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splen... ORPHA:1655
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia, Abnormal heart morphology ORPHA:2237
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... ORPHA:100924
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Snakebite Envenomation
Hyponatremia ORPHA:449285
Legionnaires Disease
Myocarditis, Endocarditis, Splenomegaly, Pericarditis, Hyponatremia ORPHA:549
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hypoglycemia, Hyperkalemia ORPHA:90790
Hartsfield Syndrome
Hypernatremia OMIM:615465
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Splenomegaly, Hypomagnesemia, Hypoc... ORPHA:37042
Renal Hypoplasia, Bilateral
Hyponatremia, Glycosuria, Hyperkalemia ORPHA:97362
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia OMIM:619381
Mirage Syndrome
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:617053
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Hypocalcemia OMIM:212750
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gitelman Syndrome
Maternal diabetes, Hypermagnesemia, Hypokalemia, Glucose intolerance, Type II diabetes mellitus, ... ORPHA:358
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Bacterial Toxic-Shock Syndrome
Myocarditis, Elevated circulating creatine kinase concentration, Hypocalcemia, Hypoalbuminemia, E... ORPHA:36234
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Alg8-Cdg
Hyponatremia ORPHA:79325
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hypoglycemia, Hyponatremia, Hyper... ORPHA:95409
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79444
Hypophosphatasia
Hypercalcemia ORPHA:436
Pearson Syndrome
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hyperalaninemia, Cardiomyopathy, Hepatomegaly, H... ORPHA:699
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hepatocellular Carcinoma
Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatre... ORPHA:88673
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Hepatomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly OMIM:259720
Hemochromatosis, Type 1
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Increased serum iron, Glucose intolerance, Incre... OMIM:235200
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypoglycemia OMIM:613027
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... OMIM:255120
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Hepatomegaly, Splenomegaly, Calcinosis OMIM:239200
Alg12-Cdg
Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal defect, Patent for... ORPHA:79324
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hepatomegaly, Hypoglycemia OMIM:616026
Velocardiofacial Syndrome
Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect OMIM:192430
Infant Botulism
Hyponatremia ORPHA:178478
Shigellosis
Myocarditis, Abnormal blood ion concentration, Hyponatremia, Hypoglycemia ORPHA:810
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Hyperammonemia, Hepatomegaly, Elevated circulating creati... OMIM:610505
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Hyperammonemia, Hypoglycemia OMIM:616483
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79443
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Monosomy 13Q34
Pulmonic stenosis, Insulin resistance, Common atrium, Hypercalcemia ORPHA:96168
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Type I diabetes mellitus, Hypogly... ORPHA:85138
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Left atrial enlargement, Ventricular septal defect, Elevated cir... OMIM:619991
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Cardiomyopathy, Hepatomegaly, Hypocalcemia ORPHA:175
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Ventricular septal defect ORPHA:163979
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia, Hyperkalemia ORPHA:293978
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:667
Cystinosis, Nephropathic
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hepatomegaly, Hypokalemia, Hypophosphatemic rick... OMIM:219800
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:168558
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Diabetes mellitus, Ventricular septal d... ORPHA:2162
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:289548
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney ORPHA:251004
Hennekam Syndrome
Pericardial effusion, Hypocalcemia, Splenomegaly ORPHA:2136
Adenohypophysitis
Hyponatremia ORPHA:95512
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Diabetes mellitus, Hyperphosphatemia, Hypocalcemia ORPHA:280651
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... ORPHA:567
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypertriglyceridemia, Pericardial effusion, In... ORPHA:167
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Panhypophysitis
Hyponatremia ORPHA:95513
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:602522
Mastocytosis
Hepatomegaly, Splenomegaly, Hypercalcemia ORPHA:98292
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia OMIM:218330
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Bartter Syndrome Type 4
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia ORPHA:89938
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Familial Dysautonomia
Hyponatremia ORPHA:1764
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypercholesterolemia, Hyperkalemia, Hypertriglyceridemia, Hyponatremia ORPHA:275761
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Japanese Encephalitis
Hyponatremia ORPHA:79139
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Complete atrioventricular canal defect ORPHA:476126
Multiple Myeloma
Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hypoplastic left heart, Ventricular septal defect, Mitral atresia, Subvalvula... OMIM:619503
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Hypertriglyceridemia, Restrictive cardiomyopathy... ORPHA:369837
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Vipoma
Diabetes mellitus, Hepatomegaly, Hypokalemia, Hypercalcemia ORPHA:97282
Pheochromocytoma
Hypercalcemia OMIM:171300
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypophosphatemia, Hypercalcemia ORPHA:249
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Increased serum bile acid concentration, Hypon... ORPHA:731
Johanson-Blizzard Syndrome
Situs inversus totalis, Ventricular septal defect, Diabetes mellitus, Atrial septal defect, Hepat... OMIM:243800
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Charge Syndrome
Dysplastic tricuspid valve, Secundum atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot... OMIM:214800
Digeorge Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Truncus arteriosus, Splenomegaly OMIM:188400
Somatostatinoma
Diabetes mellitus, Hepatomegaly, Hypercalcemia ORPHA:97283
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Fasting hyperinsulinemia, Hypercalcemia, Hyperinsulinemic hypoglycemia ORPHA:276152
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Glucagonoma
Diabetes mellitus, Hepatomegaly, Hypercalcemia ORPHA:97280
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia ORPHA:913
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating renin level, Hypoglycemia, Hyperkalemia OMIM:201750
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Splenomegaly OMIM:612301
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Williams Syndrome
Abnormal circulating lipid concentration, Pulmonic stenosis, Tetralogy of Fallot, Ventricular sep... ORPHA:904
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Pulmonic stenosis, Ventricular septal defect, Diabetes mellitus, Coronary artery stenosis, Atrial... OMIM:194050
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Sotos Syndrome
Neonatal hypoglycemia, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology... ORPHA:821
Sarcoidosis
Hepatomegaly, Hypercalcemia ORPHA:797
Combined Oxidative Phosphorylation Deficiency 50
OMIM:619025

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 Mrps25

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 Mrps25.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Mrps25tm1.1(KOMP)Vlcg 32376682
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Mrps25tm1.1(KOMP)Vlcg PMC5503261
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Mrps25tm1(KOMP)Vlcg PMC3699516

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mrps25tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mrps25tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Mrps25tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mrps25tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mrps25tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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