Gene Summary

Name:
NADH:ubiquinone oxidoreductase core subunit S3
Synonyms:
0610010M09Rik

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 cholesterol level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 5.88×10-05
increased heart weight Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 7.03×10-13
increased circulating glucose level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 8.58×10-05
increased lean body mass Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 2.60×10-05
increased circulating sodium level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 3.31×10-05
increased circulating calcium level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 2.78×10-07
decreased circulating HDL cholesterol level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 3.93×10-06
decreased circulating serum albumin level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 3.20×10-06
increased circulating phosphate level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 5.04×10-06
increased circulating creatinine level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 1.79×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Ambiguous
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.74% (4 of 537)
aorta 0.19% (1 of 532)
blood vessel 0.0%
bone 0.0%
brain 0.57% (3 of 526)
brainstem 0.36% (2 of 552)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 548)
cerebellum 0.55% (3 of 549)
cerebral cortex 0.37% (2 of 536)
eye 0.0%
gall bladder 0.0%
heart 0.38% (2 of 528)
hippocampus 0.55% (3 of 542)
hypothalamus 0.37% (2 of 547)
kidney 3.51% (19 of 541)
large intestine 1.11% (6 of 539)
liver 0.0%
lower urinary tract 0.18% (1 of 553)
lung 0.18% (1 of 543)
lymph node 0.19% (1 of 538)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 535)
ovary 0.18% (1 of 542)
oviduct 0.0%
pancreas 0.94% (5 of 534)
parathyroid gland 0.19% (1 of 519)
peripheral nervous system 0.19% (1 of 536)
peyer's patch 0.63% (1 of 159)
pituitary gland 0.19% (1 of 534)
prostate gland 2.02% (11 of 544)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 534)
small intestine 1.66% (9 of 542)
spinal cord 0.55% (3 of 544)
spleen 0.37% (2 of 539)
stomach 2.04% (11 of 538)
striatum 0.56% (3 of 540)
testis 0.94% (5 of 534)
thymus 0.19% (1 of 524)
thyroid gland 2.96% (16 of 541)
trachea 0.37% (2 of 534)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 92 images

Human diseases caused by Ndufs3 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 Ndufs3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Hypoglycemia, Increased serum pyruvate, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thr... ORPHA:2609
Leigh Syndrome With Leukodystrophy
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 8
OMIM:618230

The table below shows human diseases predicted to be associated to Ndufs3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Hyperphosphatemia, Increased body weight, Increased proins... ORPHA:94086
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Hypoalbuminemia ORPHA:88643
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatom... OMIM:612526
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:617156
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hepatomegaly, H... OMIM:232700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive OMIM:304800
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hypoglycemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:610539
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly ORPHA:172
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia OMIM:602579
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia, Cystinuria ORPHA:163693
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hypoalbuminemia, Hepatomegaly, Failure to thrive in infancy OMIM:618805
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Azotemia, Familial
Azotemia OMIM:109160
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures ORPHA:199296
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Decreased LDL ch... OMIM:616834
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Failure to thrive, Aortic valve stenosis, Weight loss OMIM:143880
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperaldosteronism OMIM:177735
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive ORPHA:223
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abnormal heart morphology, Failure to thrive, Hypoalbuminemia, Abnormal cardiac sep... OMIM:608104
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:264350
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Aminoaciduria, D... OMIM:616026
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Timothy Syndrome
Tetralogy of Fallot, Hypoglycemia, Patent foramen ovale, Hypocalcemia, Ventricular septal defect,... OMIM:601005
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hypoglycemia, Hy... ORPHA:2298
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia OMIM:209950
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Aminoaciduria, Failure to thrive, Calcinosis, Hypophos... OMIM:239200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Failure to thrive, Diabetes mellitus, Hypomagnesemia OMIM:613845
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Atrial septal defect, Hepatomegaly, Double outlet right vent... ORPHA:1667
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hyperuricemia, Failure to thrive, Hydroxyprolinemia, Hyperphosphatemia OMIM:239000
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Hepatomegaly, Steatorrhea OMIM:266510
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia, Pericardial ef... OMIM:618183
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:100025
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol conce... ORPHA:247598
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Hepatomegaly, ... ORPHA:247585
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia, Glycosuria OMIM:613388
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa... OMIM:616733
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Splenomegaly, Hepatomegaly, Failure to thrive, Hyperbili... OMIM:251880
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholestero... OMIM:615703
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Leishmaniasis
Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Glycosuria OMIM:614817
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Cardiomyocyte mitochondrial proliferation,... ORPHA:423
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Gluc... ORPHA:171876
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... OMIM:603553
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia, Hepatomegaly, Failure to thrive, Dia... ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism OMIM:214700
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age OMIM:127000
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Fanconi Renotubular Syndrome 5
Glycosuria, Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:618440
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Obesity, Hypercalcemia ORPHA:251004
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Type I diabetes mellitus, Hypercalcemia, Decreased circulating cortis... ORPHA:199299
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Fanconi Renotubular Syndrome 1
Glycosuria, Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypouricemia, Failure to thrive, Hypophosphat... OMIM:227810
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abnormal heart morphology, Hyperglycemia, Abnormal gluco... ORPHA:391673
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:308990
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia, Steatorrhea ORPHA:2070
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decre... ORPHA:95409
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity, Hyperphosphatemia ORPHA:457059
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss, Pericardial effusion ORPHA:90362
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Potocki-Lupski Syndrome
Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to thrive, Hypocho... OMIM:610883
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Small for gestational age, Abnormal heart morphology, Failure to thrive, T... ORPHA:99886
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Fail... ORPHA:88618
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypotonia-Cystinuria Syndrome
Failure to thrive, Neonatal hypoglycemia, Hypocalcemia, Cystinuria OMIM:606407
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Recurrent hypoglycemia, Decre... OMIM:212140
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocarditis, Hypophosp... ORPHA:31824
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia, Obesity, Pulmonic stenosis, Common atrium ORPHA:96168
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Hepatomegaly, Abnormal cardiomyocyte morphology, Fail... ORPHA:367
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Neonatal hypoglycemia, Small for gestational age, Elevated circulating creatine kin... OMIM:619055
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Small for gestational age, Atrial ... ORPHA:26793
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Hyperkalemia, Decreased circulating co... ORPHA:361
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Hyperproteinemia, Wei... ORPHA:29073
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoket... OMIM:600649
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Nephronophthisis 2
Hyperkalemia, Enlarged kidney, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:602088
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Addison Disease
Hypoglycemia, Hyponatremia, Type I diabetes mellitus, Hypercalcemia, Increased circulating renin ... ORPHA:85138
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Hepatomegaly, Hyperbilirubinemia, Hypoalb... ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypertrophic cardiomyopathy, Failure to thrive, Hypoalbuminemia, Hyperalaninemia OMIM:618329
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypok... OMIM:255120
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypoalbuminemia, Pericardial effusion, Hyperammonemia ORPHA:292
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Failure to thrive, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Pericardia... OMIM:212065
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Failure to thrive, Hyponatremia OMIM:300200
Cystinosis
Hypokalemia, Aminoaciduria, Failure to thrive, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:613095
Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:427
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Small for gestational age OMIM:101800
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circulating cortisol ... OMIM:618838
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Failure to thrive, Hyperbil... OMIM:605814
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypoalbuminemia, Hypert... ORPHA:540
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Whipple Disease
Hyponatremia, Insulin resistance, Myocarditis, Splenomegaly, Hepatomegaly, Cachexia, Pericarditis ORPHA:3452
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia ORPHA:173
Mastocytosis
Splenomegaly, Hepatomegaly, Hypercalcemia ORPHA:98292
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Failure to thrive ORPHA:90790
Hartsfield Syndrome
Hypernatremia OMIM:615465
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Weight loss, Hypoalbuminemia ORPHA:67
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia OMIM:131100
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Abetalipoproteinemia
Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to thrive, Hy... ORPHA:14
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Steatorrhea ORPHA:71
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Biventricular hypertrophy, Recurrent hypoglycemia, Muscular v... ORPHA:79324
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Failure to thrive, Hypercalcemia ORPHA:476126
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly ORPHA:64743
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal cardiac atrium morphology, Hypertrophic card... ORPHA:85443
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Pericarditis, Left ventricu... OMIM:619487
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased c... ORPHA:90791
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia, Diabetes mellitus ORPHA:280651
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Myocarditis, Elevated circulating cr... ORPHA:36234
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Snakebite Envenomation
Hyponatremia ORPHA:449285
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Decreased body weight, Decreased serum zinc, Decreased serum iron, Decrea... ORPHA:89842
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia, Splenomegaly, Cache... ORPHA:37042
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Hyperuricemia, Hypermagnesemia, Hypophosphatemia ORPHA:469
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hypoglycemia, Decreased plasma total carnitine, Elevated... OMIM:608836
Alg8-Cdg
Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Vipoma
Hypokalemia, Hypercalcemia, Hepatomegaly, Diabetes mellitus, Weight loss, Increased circulating c... ORPHA:97282
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, H... OMIM:617303
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Small for gestational age, Increased circulating renin level, Hyperca... OMIM:601678
Legionnaires Disease
Hyponatremia, Splenomegaly, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Somatostatinoma
Hypercalcemia, Hepatomegaly, Diabetes mellitus, Weight loss, Increased circulating cortisol level... ORPHA:97283
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia... ORPHA:3337
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia, Hypernatrem... OMIM:619381
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Small for gestational age, Hypermethioninemia, Hepatomegaly, Pulmonic stenos... OMIM:222470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Atrial septal defect, Obesity, Abnormal heart morphology, Restrictive cardiomyopat... ORPHA:369837
Mirage Syndrome
Hyperkalemia, Decreased body weight, Hyponatremia, Hypoglycemia OMIM:617053
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus, Hypercalcemia ORPHA:249
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Failure to thrive, Hyponatremia, Recurrent hypoglycemia ORPHA:293978
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Decreased body weight, Hyperphosphatemia, Elevated circulating creatinine concentra... ORPHA:340
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Cardiac amyloidosis, Hypertrophic ... ORPHA:439232
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating tra... ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Cardiomegaly, L... OMIM:617713
Double Outlet Right Ventricle
Tetralogy of Fallot, Hypocalcemia, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic ... ORPHA:3426
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... ORPHA:465508
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Failure to thrive, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Glucagonoma
Hypercalcemia, Hepatomegaly, Diabetes mellitus, Weight loss, Increased circulating cortisol level... ORPHA:97280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia OMIM:600081
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Cachexia OMIM:175500
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hepatomegaly, Hyperuricemia, Failure t... OMIM:229600
Infant Botulism
Hyponatremia ORPHA:178478
Ppoma
Hepatomegaly, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97278
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cardiomyopathy, Diabete... OMIM:235200
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia, Cardiomyopathy, Left ventri... ORPHA:746
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Failure to thrive, Hypophosphatemia ORPHA:289157
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Weight loss, Hypercalcemia ORPHA:143
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia ORPHA:29072
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Shigellosis
Hypoglycemia, Hyponatremia, Failure to thrive in infancy, Abnormal blood ion concentration, Myoca... ORPHA:810
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Zollinger-Ellison Syndrome
Increased glucagon level, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:913
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypoalbuminemia, Pericardial lymphangiectasia, P... OMIM:235510
Pituitary Apoplexy
Hypoglycemia, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased glucagon level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia,... ORPHA:276152
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Failure to thr... ORPHA:275761
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia, Left ven... ORPHA:31150
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Patent foramen ovale, Small for gestational age OMIM:607143
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Cystinosis, Nephropathic
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hyponatremia, Failure to thrive in infancy, H... OMIM:219800
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased c... ORPHA:168558
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Grfoma
Hepatomegaly, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97261
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia OMIM:619064
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased c... ORPHA:289548
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased plasma total carnitine, Hepatomegaly, Elevated circulating creatine kinas... ORPHA:42
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly, Hyperalaninemia OMIM:619170
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Small for gestational age, Hypochloremia, Increased circulating renin ... ORPHA:89938
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly OMIM:259700
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Aminoaciduria, Failure to thrive, Hypo... ORPHA:411629
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Hypertrophic car... ORPHA:505248
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Sheehan Syndrome
Decreased circulating cortisol level, Obesity, Hyponatremia, Hypoglycemia ORPHA:91355
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Hepatomegaly, E... OMIM:201475
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia, Myocardial steatosis OMIM:228100
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Mildly elevated creatine... ORPHA:79102
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevat... ORPHA:99826
Dent Disease 1
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:300009
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Elevated circulating creatinine concentration, Tricuspid atresia, Atrial sep... OMIM:617478
Juvenile Polyposis Of Infancy
Atrial septal defect, Abnormal heart morphology, Hypoalbuminemia, Cachexia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Small for gestational age, Slender build, Hypocalcemia, Failure to thrive, Hypoalbu... OMIM:613658
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:235255
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism, Hypomagnesemia, Pe... ORPHA:73224
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Small for gestational age OMIM:251300
Hypophosphatemic Rickets
Failure to thrive, Hypophosphatemia, Hypercalcemia ORPHA:437
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Hypoalbuminemia, Weight... ORPHA:171
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Hypocholesterolemia, Failure to thrive, Ventricular septal defect OMIM:244450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia ORPHA:79396
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Hypoglycemia, Hyponatremia, Failure to ... ORPHA:2162
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypert... OMIM:151660
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperuricemia, Hyperglycemia, Weight loss, Hyperammonemia ORPHA:134
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Diabetes mellitus ORPHA:544482
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Pearson Syndrome
Glycosuria, Hypokalemia, Small for gestational age, Hypocalcemia, Splenomegaly, Hepatomegaly, Abn... ORPHA:699
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatomegaly, Ventricular septal... ORPHA:1655
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Familial Dysautonomia
Hyponatremia ORPHA:1764
Opsismodysplasia
Hypophosphatemia OMIM:258480
Celiac Disease, Susceptibility To, 1
Weight loss, Hypocalcemia, Failure to thrive, Type I diabetes mellitus, Steatorrhea OMIM:212750
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis, Abdominal obesity, Truncal obesity OMIM:615812
Oligomeganephronia
Secundum atrial septal defect, Elevated circulating creatinine concentration, Small for gestation... ORPHA:2260
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Incre... ORPHA:85451
Biliary, Renal, Neurologic, And Skeletal Syndrome