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Gene: Ndufs3 MGI:1915599

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral density Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 5.61×10-05
decreased circulating HDL cholesterol level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-06
increased circulating phosphate level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 5.04×10-06
increased lean body mass Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 1.15×10-06
increased circulating sodium level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 3.31×10-05
decreased circulating serum albumin level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 3.13×10-06
increased body weight Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 7.63×10-05
increased heart weight Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 6.47×10-15
decreased circulating cholesterol level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 5.05×10-06
decreased erythrocyte cell number Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 6.63×10-05
increased circulating glucose level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 8.58×10-05
increased circulating calcium level Ndufs3tm1a(EUCOMM)Wtsi HET Early adult 2.78×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Ndufs3tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 92 images

Ndufs3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ndufs3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Diabetes mellitus, Increased serum ... ORPHA:2609
Leigh Syndrome With Leukodystrophy
Failure to thrive, Anemia, Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 8
Stiff neck OMIM:618230

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Blue Diaper Syndrome
Hyperphosphatemia, Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Inc... ORPHA:94086
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia OMIM:603233
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hepatomega... OMIM:619868
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia, Ectopic ossification ORPHA:79445
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... OMIM:613752
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Osteopenia, Hyperc... OMIM:617994
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone mineral density ORPHA:172
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypophosphatasia
Anemia, Recurrent fractures, Craniosynostosis, Hypercalcemia, Failure to thrive in infancy ORPHA:436
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity, Osteoporosis OMIM:612462
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly ORPHA:2123
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... OMIM:209950
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy... ORPHA:36913
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Hypocalcemia, ... ORPHA:210110
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... OMIM:267700
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Obesity, Osteoporosis, Subcutaneous ossification OMIM:103580
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hypercholesterolemia, Hy... OMIM:612526
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Anemia, Transient hypophosphatemia, Small for gestational age, Increased bone ... OMIM:127000
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia, Weight loss ORPHA:69077
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... OMIM:226990
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Failure t... OMIM:232700
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Failure to thrive, Increased circulating 18-hydr... OMIM:610600
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Hepatomegaly, Thro... ORPHA:507
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... OMIM:239000
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Hypoalbumi... OMIM:618805
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Osteopenia ORPHA:99879
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... ORPHA:2298
Ataxia-Oculomotor Apraxia 4
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:616267
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... OMIM:615751
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... OMIM:618858
Calciphylaxis
Hyperphosphatemia, Ectopic ossification ORPHA:280062
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... ORPHA:3008
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, P... OMIM:259700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Failure to thrive... OMIM:613845
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Craniosynostosis, Osteopenia OMIM:614732
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... OMIM:603553
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density with cystic changes, I... ORPHA:94089
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hyperparathyroidism, Neonatal Severe
Anemia, Recurrent fractures, Calcinosis, Hypophosphatemia, Failure to thrive, Hypercalcemia, Hepa... OMIM:239200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Increased susceptibility to fractures, Anemia, Unossified vertebra... OMIM:241500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Weight loss, Normocytic anemia, Decreased circu... ORPHA:199299
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Ventricular septal defect OMIM:615508
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:606176
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Juvenile rheumatoid arthritis, Increased... ORPHA:158061
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Joint hypermobility, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypophosphatemia, Large for gestational age, Rickets, Diabetes mellitus, Hypoglycemia... OMIM:616026
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Increased LDL cholesterol concentration, ... OMIM:615703
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... ORPHA:556037
Wolcott-Rallison Syndrome
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Decreased body weigh... ORPHA:1667
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... ORPHA:166119
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... OMIM:616834
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Smal... ORPHA:324575
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Enlarged kidney, Increased blood urea nitrogen, Episodic hemolytic anemia, H... ORPHA:251004
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hepatomegaly, H... OMIM:266510
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating selenium concentration, Obesity ORPHA:171706
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... ORPHA:556030
Hypophosphatemic Bone Disease
Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:177735
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Camptodactyly, Failure to thrive, Hepatomegaly,... OMIM:608104
Eosinophilic Gastroenteritis
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:2070
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia ORPHA:163693
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis OMIM:211900
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Rickets, Failure to thrive, Hepatomegaly, Hypocholesterolemia, Splenomegaly, Conjuga... OMIM:607765
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Hypophosphatemia, Rickets, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Central Diabetes Insipidus
Failure to thrive, Weight loss, Hyponatremia ORPHA:178029
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Pericardial effusion, Ly... ORPHA:90362
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology, Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia, Hepatomegaly ORPHA:100025
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Small for gestational age, Abnormal heart morphology, Leukocytosis,... ORPHA:391673
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... ORPHA:199296
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Osteolysis, Osteosclerosis of the ulna, Hypercalcemia, Scl... OMIM:602080
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity, Hypertrigl... ORPHA:71529
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Rickets, Failure to thrive, Diabetes me... ORPHA:2088
Multiple Myeloma
Anemia, Weight loss, Hypercalcemia, Osteopenia, Tall stature, Elevated circulating creatinine con... ORPHA:29073
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Obesity, Recurrent fractures ORPHA:457059
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Osteopenia, Weight loss ORPHA:97289
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ... ORPHA:79444
Infantile Myofibromatosis
Osteolysis, Hypercalcemia, Limitation of joint mobility, Bone cyst ORPHA:2591
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia ORPHA:2323
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Weight loss, Hyperkalemia, ... ORPHA:171876
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis OMIM:612287
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Tal... ORPHA:3152
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hepatocellular Carcinoma
Anemia, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hy... ORPHA:88673
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Type II diabetes mellitus, Increased LDL cholesterol concentration, Tru... OMIM:615812
Oculoskeletodental Syndrome
Small for gestational age, Elbow flexion contracture, Hypercalcemia, Hepatomegaly, Hypocalcemia, ... OMIM:618440
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Calvarial osteosclerosis, Cortical thickening of ... ORPHA:93325
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, Weight loss, Osteoma... OMIM:619381
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:600081
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetral... OMIM:601005
Albers-Schönberg Osteopetrosis
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... ORPHA:53
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Ecto... ORPHA:2485
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Bicuspid aortic valve, Elbow f... OMIM:618156
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, ... ORPHA:181393
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Monosomy 13Q34
Common atrium, Insulin resistance, Hypercalcemia, Obesity, Pulmonic stenosis ORPHA:96168
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hepatomegaly, Hypoalbuminemia OMIM:602579
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis OMIM:612286
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Hyperostosis frontalis ... ORPHA:79443
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Mastocytosis
Splenomegaly, Recurrent fractures, Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Ost... ORPHA:98292
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Hypophosphatemia, Osteopenia, Hypercalcemia, Pathologi... OMIM:156400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... OMIM:611490
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia OMIM:616730
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa... OMIM:242150
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Large f... ORPHA:276580
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Normocytic anemia, Decreased circu... ORPHA:85138
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Lar... ORPHA:552
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morpholog... ORPHA:367
Congenital Enterovirus Infection
Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Pericardial effu... ORPHA:292
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... ORPHA:95409
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Fibrous Dysplasia Of Bone
Thin bony cortex, Increased circulating cortisol level, Osteomalacia, Hypophosphatemia, Rickets, ... ORPHA:249
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... ORPHA:276575
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:251880
Fanconi-Bickel Syndrome
Osteomalacia, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia OMIM:227810
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... OMIM:179800
Potocki-Lupski Syndrome
Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to thrive, Hypocho... OMIM:610883
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Decrea... ORPHA:93324
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... OMIM:241530
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Osteomalacia OMIM:600740
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Reduced bone mineral density ORPHA:428
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoplast... OMIM:617053
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... ORPHA:157215
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... ORPHA:14
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoacidosis, Maternal ... ORPHA:99886
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... ORPHA:93160
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... ORPHA:26793
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Fanconi Renotubular Syndrome 2
Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Rickets, Osteopenia OMIM:613388
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... OMIM:214700
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Small for gestational age, Epiphyseal stippling, Calvarial hyperostosis, Neona... OMIM:101800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... ORPHA:423
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly... ORPHA:540
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy, Hyperhomocystinemia, Elevated circulating creatine kinase con... ORPHA:88618
Alg8-Cdg
Anemia, Small for gestational age, Camptodactyly, Failure to thrive, Hyponatremia, Thrombocytopenia ORPHA:79325
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Osteomyelitis, Reduced proportion of CD4-negative, CD8-negative, alph... ORPHA:37042
Familial Glucocorticoid Deficiency
Weight loss, Ketotic hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Failure to... ORPHA:361
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:264700
Hyperkalemic Periodic Paralysis
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:682
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis ORPHA:71
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Alg12-Cdg
Patent foramen ovale, Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Failure to th... ORPHA:79324
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Fanconi Renotubular Syndrome 1
Osteomalacia, Glycosuria, Hypokalemia, Hypophosphatemia, Rickets OMIM:134600
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hypoglycemia, Hyponatremia OMIM:608688
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... ORPHA:100924
Aicardi-Goutieres Syndrome 9
Anemia, Hemolytic anemia, Weight loss, Pericardial effusion, Left ventricular hypertrophy, Hepato... OMIM:619487
Whipple Disease
Anemia, Arthritis, Cachexia, Insulin resistance, Pericarditis, Hepatomegaly, Hyponatremia, Myocar... ORPHA:3452
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Flexion contracture, Pericardial effusion, Steatorrhea, Pericarditis, Failure to ... OMIM:212065
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Weight loss, Constrictive pericarditis, Leukocytosis, Hy... ORPHA:67
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... ORPHA:96180
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:601820
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbum... OMIM:618183
Cystinosis
Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets, Failure to thrive ORPHA:213
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Sparse b... ORPHA:289157
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Flexion contracture, Decreased body weight, Decreased plasma carnitine, Decreased serum i... ORPHA:89842
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss, Increased circulating NT-proBNP concentration, Hypertro... ORPHA:85443
Hypophosphatemic Rickets
Osteomalacia, Enthesitis, Hypophosphatemia, Rickets, Failure to thrive, Craniofacial osteoscleros... ORPHA:437
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly, Increased body weight ORPHA:890
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Renal Hypoplasia, Bilateral
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Hyponatremia ORPHA:97362
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Flexion contracture, Enlarged kidney, Atrial septal defect, Hypertrophic card... OMIM:617303
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia ORPHA:79273
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Decreased skull ossification, Hypocalcemia, Hypomagnesemia OMIM:244460
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... OMIM:619055
Osteopetrosis, Autosomal Recessive 5
Anemia, Increased bone mineral density, Hyperbilirubinemia, Pancytopenia, Decreased osteoclast co... OMIM:259720
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Insulin resistance, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
X-Linked Agammaglobulinemia
Anemia, Osteomyelitis, Weight loss, Arthritis, Failure to thrive, Thrombocytopenia, Hypocalcemia,... ORPHA:47
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:277440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Restrictive cardiomyopathy, Atrial septal defect, Joint hypermobility, Hype... ORPHA:369837
Bacterial Toxic-Shock Syndrome
Septic arthritis, Osteomyelitis, Arthritis, Increased circulating metamyelocyte count, Elevated c... ORPHA:36234
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoalbuminemia OMIM:618329
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Abnormal circu... ORPHA:263455
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Anemia, Small for gestational age, Unconjugated hyperbilirubinemia, Joint laxit... OMIM:613658
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... OMIM:618838
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... OMIM:300554
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Abnormality of iron homeostasis, Weight loss, Stiff interphalangeal joints, Arthrit... ORPHA:465508
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Small for gestational age, Hypokalemia, Inc... OMIM:601678
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Wilson Disease
Splenomegaly, Anemia, Hemolytic anemia, Osteomalacia, Glycosuria, Decreased circulating cerulopla... OMIM:277900
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Adrenal Hypoplasia, Congenital
Failure to thrive, Decreased circulating cortisol level, Hyponatremia OMIM:300200
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... OMIM:618620
Shigellosis
Arthritis, Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leu... ORPHA:810
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphat... OMIM:307800
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... OMIM:231095
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Somatostatinoma
Increased circulating cortisol level, Weight loss, Steatorrhea, Hypochromic microcytic anemia, Di... ORPHA:97283
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia ORPHA:405
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Diabetes mellitus, Hypercholesterolemia, Obesity, ... ORPHA:77296
Vipoma
Weight loss, Increased circulating cortisol level, Hypokalemia, Diabetes mellitus, Hypercalcemia,... ORPHA:97282
Familial Hypoaldosteronism
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hepatomegaly, Hypoalbuminemia OMIM:613070
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia ORPHA:90790
Acrodysostosis With Multiple Hormone Resistance
Diabetes mellitus, Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia OMIM:613090
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Joint... OMIM:616222
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glucagonoma
Weight loss, Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Diabetes mel... ORPHA:97280
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Anemia, Decreased body weight, Hyperkalemia, Leukocytosis, Elevated circulatin... ORPHA:340
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Ventricular septal defect, Sma... OMIM:222470
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia, Abdominal obesity, Osteoporosis, Increased b... OMIM:615954
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Gaucher Disease Type 1
Leukopenia, Anemia, Pericardial effusion, Increased bone mineral density, Hypersplenism, Pancytop... ORPHA:77259
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Sparse bone tr... OMIM:300009
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young, Joint hypermobility ORPHA:254531
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Obesity, Diabetes mellitus OMIM:144800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypertyrosinemia, Hypoglycemia, Conjug... OMIM:617156
Celiac Disease, Susceptibility To, 1
Weight loss, Type I diabetes mellitus, Steatorrhea, Rickets, Failure to thrive, Thrombocytosis, M... OMIM:212750
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Neonatal h... ORPHA:90791
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... OMIM:259710
Cholera
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia ORPHA:173
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... OMIM:615980
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Lysosomal Acid Lipase Deficiency
Anemia, Weight loss, Hypersplenism, Cachexia, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Fail... ORPHA:275761
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, ... ORPHA:411634
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Failure to thrive, Decreased skull ossification, Hypoplastic spleen OMIM:602361
Legionnaires Disease
Endocarditis, Lymphopenia, Pericarditis, Hyponatremia, Myocarditis, Splenomegaly ORPHA:549
Tangier Disease
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholester... ORPHA:31150
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Increased circulating cortisol level, Decreased circulating free fatty... ORPHA:79644
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyperkalemia, Autoimmune thrombocytopenia, Failure to thriv... ORPHA:293978
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic... OMIM:614702
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Hemochromatosis, Type 1
Increased serum iron, Glucose intolerance, Osteoporosis, Diabetes mellitus, Increased circulating... OMIM:235200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Weight loss, Osteomalacia, Glycosuria, Decreased plasma ca... ORPHA:3337
Oncogenic Osteomalacia
Increased susceptibility to fractures, Hypophosphatemia, Hypocalcemia, Pathologic fracture, Fibro... ORPHA:352540
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:600649
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Flexion contracture, Patent foramen ovale, Enlarged kidney, Atrial septal def... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... OMIM:619743
Chédiak-Higashi Syndrome
Splenomegaly, Anemia, Neutropenia, Pericardial effusion, Pancytopenia, Hepatosplenomegaly, Increa... ORPHA:167
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:168558
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Elevated circulating creati... OMIM:212140
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:289548
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Osteomalacia, Abnormal trabecular bone morphology, I... ORPHA:289176
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,... ORPHA:90038
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Anemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, R... ORPHA:79240
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Osteoporosis, Weight loss ORPHA:143
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (... OMIM:248370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Splenomegaly, Anemia, Abnormal erythrocyte enzyme level, Elevated circulating cre... ORPHA:264580
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatine kinase ORPHA:681
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Hypoplastic left he... ORPHA:3426
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Arthritis, Giant platelets, Reticulocytosis, E... OMIM:210250
Ppoma
Increased circulating cortisol level, Hypercalcemia, Weight loss, Hepatomegaly ORPHA:97278
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Obesity, Normochromic anemia ORPHA:91355
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy... OMIM:262190
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi... OMIM:219800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Coronal craniosynostosis, Pericardial e... OMIM:235510
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... ORPHA:1306
Pituitary Apoplexy
Increased circulating cortisol level, Hypoglycemia, Normochromic anemia, Hyponatremia ORPHA:95613
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Infantile Nephropathic Cystinosis
Glycosuria, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Rickets, Failure to ... ORPHA:411629
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Recurrent fractures, Increased bone mineral density, Joint hypermobility, ... OMIM:614856
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Hypocalcemia, Os... OMIM:618476
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Atrial septal defect, Abnormal heart morphology, Refractory anemia, Hypoalbumin... ORPHA:79076