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
decreased circulating calcium level Mrps25tm1.1(KOMP)Vlcg HET Early adult 3.21×10-05
increased heart weight Mrps25tm1.1(KOMP)Vlcg HET Early adult 8.11×10-06
preweaning lethality, complete penetrance Mrps25tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased circulating glucose level Mrps25tm1.1(KOMP)Vlcg HET   Early adult 9.60×10-05
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
embryonic lethality prior to organogenesis Mrps25tm1.1(KOMP)Vlcg HOM   E9.5 0.00

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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 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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
epididymis 13.28% (17 of 128)
esophagus 1.57% (6 of 381)
eye 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
submandibular gland 1.59% (2 of 126)
testis 1.08% (6 of 553)
thalamus 0.0%
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
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 1.09% (5 of 460)
dorsal root ganglion 1.75% (1 of 57)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
fronto-nasal process 1.79% (1 of 56)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)

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 Skull Lateral Orientation

11 Images

Adult LacZ

LacZ Images Section

45 Images

Sleep Wake

Wake state (bmp file)

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Slit Lamp

1 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 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)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatom... OMIM:612526
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Timothy Syndrome
Tetralogy of Fallot, Hypoglycemia, Patent foramen ovale, Hypocalcemia, Ventricular septal defect,... OMIM:601005
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:614736
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:172
Adamantinoma
Hypercalcemia ORPHA:55881
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
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
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:100025
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:232700
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hypoglycemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Hepatomegaly OMIM:609016
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Hyp... ORPHA:324575
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Hepatomegaly, Hyperammonemia ORPHA:35
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Atrial septal defect, Hypocalcemia... ORPHA:26793
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:79159
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocarditis, Hypophosp... ORPHA:31824
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia, Pericardial ef... OMIM:618183
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Diabetes mellitus, Hyperuricemia OMIM:613845
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia, Myocardial steatosis OMIM:228100
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia ORPHA:173
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Double Outlet Right Ventricle
Tetralogy of Fallot, Hypocalcemia, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic ... ORPHA:3426
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Left ventricular hypertrophy, Cardiomyopathy ORPHA:746
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Necrotizing Enterocolitis
Abnormal heart morphology, Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hepatomegaly, Hypercalcemia OMIM:618440
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoket... OMIM:600649
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Recurrent hypoglycemia, Hyper... OMIM:212140
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinem... ORPHA:1667
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Pericardial effusion ORPHA:90362
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:259700
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoglycemia OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Hepatomegaly, Decreased plasma free carnitine, Ventricular hypertrophy, Left ventri... OMIM:619048
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Hyperkalemia, Hypertrophic cardiomyopathy ORPHA:361
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, C... OMIM:232400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemia, Hypocalcemic tetany, Hypomagnesemia, Pericardial effusion ORPHA:73224
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:235255
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Whipple Disease
Hyponatremia, Insulin resistance, Splenomegaly, Myocarditis, Hepatomegaly, Pericarditis ORPHA:3452
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Hartsfield Syndrome
Hypernatremia OMIM:615465
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Legionnaires Disease
Hyponatremia, Splenomegaly, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal... ORPHA:1655
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypok... OMIM:255120
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Snakebite Envenomation
Hyponatremia ORPHA:449285
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hypoglycemia, Hyponatremia ORPHA:90790
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hypoglycemia, Hyperam... OMIM:618120
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Splenomegaly, Hypoalbuminemia, Hypomagnesemia, Ty... ORPHA:37042
Mirage Syndrome
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:617053
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:259720
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:95409
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Insulin resistance, Hypocalcemia, Glucose intolerance, Type I... ORPHA:358
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Myocarditis, Elevated circulating cr... ORPHA:36234
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cardiomyopathy, Diabete... OMIM:235200
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Hypophosphatasia
Hypercalcemia ORPHA:436
Alg8-Cdg
Hyponatremia ORPHA:79325
Pearson Syndrome
Glycosuria, Hypokalemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Abnormal heart morphology, Car... ORPHA:699
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Type I diabetes mellitus OMIM:212750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Hepatomegaly, Hyperbilirubinemia, Hypoalb... ORPHA:88673
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:613027
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Infant Botulism
Hyponatremia ORPHA:178478
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Diabetes mellitus ORPHA:544482
Shigellosis
Abnormal blood ion concentration, Hypoglycemia, Myocarditis, Hyponatremia ORPHA:810
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Calcinosis, Hypophosphatemia OMIM:239200
Addison Disease
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:85138
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Biventricular hypertrophy, Recurrent hypoglycemia, Muscular v... ORPHA:79324
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Diabetes mellitus, Hypophosphatemia OMIM:616026
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Pituitary Apoplexy
Hypoglycemia, Hyponatremia ORPHA:95613
Velocardiofacial Syndrome
Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect OMIM:192430
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy, Hyperammonemia OMIM:616483
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Cartilage-Hair Hypoplasia
Hypocalcemia, Cardiomyopathy, Hepatomegaly, Abnormal cardiac septum morphology ORPHA:175
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Hepatomegaly, Low plasma citrulline OMIM:261680
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Hyperbilirubinemia, Ventricular septal defect ORPHA:163979
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Hepatomegaly, Hypophosphatemia ORPHA:667
Monosomy 13Q34
Infantile hypercalcemia, Insulin resistance, Common atrium, Pulmonic stenosis ORPHA:96168
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:168558
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Sheehan Syndrome
Hypoglycemia, Hyponatremia ORPHA:91355
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Hypoglycemia, Hyponatremia, Ventricular... ORPHA:2162
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:289548
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia ORPHA:251004
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Hepatomegaly, Decr... OMIM:219800
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... ORPHA:167
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Diabetes mellitus ORPHA:280651
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Maternal diabetes, Atrial septal defect, Biventricular hyper... ORPHA:860
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Adenohypophysitis
Hyponatremia ORPHA:95512
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect... ORPHA:567
Cranioectodermal Dysplasia 1
Hepatomegaly, Hypocalcemia, Bicuspid aortic valve OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Hennekam Syndrome
Hypocalcemia, Splenomegaly, Pericardial effusion ORPHA:2136
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia, Hepatomegaly ORPHA:2785
Panhypophysitis
Hyponatremia ORPHA:95513
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Mastocytosis
Splenomegaly, Hepatomegaly, Hypercalcemia ORPHA:98292
Familial Dysautonomia
Hyponatremia ORPHA:1764
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Hypercholesterolemia, Hyperkalemia, Hypertriglyceridemia ORPHA:275761
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Japanese Encephalitis
Hyponatremia ORPHA:79139
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... ORPHA:85451
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Multiple Myeloma
Hyperproteinemia, Splenomegaly, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Vipoma
Hypokalemia, Diabetes mellitus, Hepatomegaly, Hypercalcemia ORPHA:97282
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Hyper... ORPHA:369837
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Neonatal hypoglycemia, Cardiomyopathy OMIM:261740
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hypophosphatemia ORPHA:534
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Atrial septal defect, Hypocalcemia, Situs inversus totalis, Ventricular s... OMIM:243800
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Splen... ORPHA:731
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hyponatremia, Hypochloremia ORPHA:90794
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Subvalvular aortic stenosis, Hypocalcemia, Muscular ventricular septal defect... OMIM:619503
Fibrous Dysplasia Of Bone
Hypophosphatemia, Diabetes mellitus, Hypercalcemia ORPHA:249
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Charge Syndrome
Overriding aorta, Tetralogy of Fallot, Atrial septal defect, Dysplastic tricuspid valve, Hypocalc... OMIM:214800
Digeorge Syndrome
Tetralogy of Fallot, Hypocalcemia, Splenomegaly, Ventricular septal defect, Truncus arteriosus OMIM:188400
Somatostatinoma
Diabetes mellitus, Hepatomegaly, Hypercalcemia ORPHA:97283
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypercalcemia ORPHA:276152
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Glucagonoma
Diabetes mellitus, Hepatomegaly, Hypercalcemia ORPHA:97280
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Hypoglycemia, Hypophosphatemic rickets, Hypertrophic... OMIM:276700
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Ppoma
Hepatomegaly, Hypercalcemia ORPHA:97278
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia ORPHA:913
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets,... ORPHA:3337
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hepatomegaly, Hypocalcemic seizures OMIM:612301
Grfoma
Hepatomegaly, Hypercalcemia ORPHA:97261
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hepatomegaly, Hyperuricemia, Hyperbili... OMIM:229600
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Tetralogy of Fallot, Hypercalcemia, Atrial sep... ORPHA:904
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Coronary artery stenosis, Hypercalcemia, Atrial septal defe... OMIM:194050
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Sotos Syndrome
Neonatal hypoglycemia, Hypercalcemia, Atrial septal defect, Abnormal heart morphology, Ventricula... 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

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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
Mrps25tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mrps25tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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