Gene Summary

Name:
solute carrier family 5 (sodium/glucose cotransporter), member 2
Synonyms:
Sglt2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (3 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 33.33% (1 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 33.33% (1 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 33.33% (1 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.

Histopathology

Images

7 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Slc5a2 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 Slc5a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100

The table below shows human diseases predicted to be associated to Slc5a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Diabetes mellitus, Hyperglycemia, Polydipsia OMIM:222100
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalc... OMIM:613388
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Rickets, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes melli... OMIM:616026
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Chondrocalcinosis, Parathyroid adenoma, Osteopenia, Hypercal... ORPHA:99879
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Hyperphosphaturia, Generalized aminoaciduria, Rickets, Im... ORPHA:2088
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Delayed epiphyseal ossification, Low-molecular-weight ... OMIM:300009
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Osteoma... OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Incre... OMIM:612286
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibil... OMIM:612287
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hyperphosphaturia, Hypophospha... ORPHA:157215
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Proteinuria OMIM:615605
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Glycosuria, Tubulointerstitial nephri... OMIM:614817
Dent Disease
Hematuria, Renal hypophosphatemia, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Dela... ORPHA:1652
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Recurrent urinary tract infections,... OMIM:248250
Wilson Disease
Osteoporosis, Joint hypermobility, Hyperphosphaturia, Chondrocalcinosis, Dysphagia, Aminoaciduria... OMIM:277900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Hyp... OMIM:614736
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Polydipsia, Renal p... ORPHA:18
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketonuria, Hyper... ORPHA:2089
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Chronic kidney di... ORPHA:3337
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality... ORPHA:223
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin system, Increased... OMIM:607364
Mody
Abnormal oral glucose tolerance, Abnormal insulin level, Overweight, Hyperinsulinemic hypoglycemi... ORPHA:552
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Recurrent fractures, Hypercalciuria... OMIM:239200
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Aminoaciduria, Ab... ORPHA:411629
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilica... OMIM:300555
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Osteomalacia ORPHA:89937
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Polyuria, Central diabetes insipidus, Hydronephrosis OMIM:304900
Cystinosis
Hypophosphatemia, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, Aminoaciduria, Nephrop... ORPHA:213
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Amelogenesis imperfecta, Recurrent urinary tract infections, Hypercalciuri... OMIM:248190
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria, Obesity ORPHA:34527
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:241200
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria OMIM:606824
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperpla... OMIM:613677
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Abnormality of the urina... ORPHA:99886
Cataract 47
Glycosuria OMIM:612018
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Autoimmunity, Chondrocalcinosis, Renal hypophosp... ORPHA:405
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Hyperaldosteronism, Renal sodium... ORPHA:199343
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria, Failure to thrive, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Diabetes insipidus, Polydipsia OMIM:304800
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Renal insufficiency, Parathyroid hyperplasia, Hyperphosp... ORPHA:99877
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Weight loss, Hypercalcemia, Failure to thrive, Renal insufficiency, Nep... ORPHA:35710
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Proximal tu... OMIM:300554
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Pathologic fracture, Hypercalcemia, Hip cont... OMIM:156400
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Renal phosphate wasting, Rickets, Hypophosphatemic ric... OMIM:612089
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia, Failure to thrive OMIM:617950
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Renal salt wasting, Increased circulati... OMIM:610600
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating parathyroid ho... ORPHA:437
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Renal phosphate wasting, Delayed epiphyseal ossification, Rickets, Hypophosphat... OMIM:241530
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Reduced bone mineral density, Hypermagnesiuria, Hypomagnesemia, Nep... ORPHA:428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Failure to thr... OMIM:613845
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia, Fibrous dysplasia of ... ORPHA:352540
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal ins... OMIM:154020
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fanconi syndrome, Renal tu... OMIM:220110
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fanconi syndrome, Renal tu... ORPHA:436271
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Craniosynostosis, Abnormality of renal excretion, Hyperphosphaturia, Abn... ORPHA:289176
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Arthritis, Agammaglobulinemia, Frequent Gia... OMIM:300310
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Abdominal pain, Weight loss, Diarrhea OMIM:191390
Mccune-Albright Syndrome
Hypophosphatemia, Renal phosphate wasting, Abnormal endocrine physiology, Elevated circulating gr... ORPHA:562
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Increased circulating renin level, Decreased circulating aldost... OMIM:203400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Enamel hypomin... OMIM:307800
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi... OMIM:229600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Osteomalacia, Multiple lipom... OMIM:600740
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Renal salt wasting, Hyperaldosteronism, Failu... OMIM:264350
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Large for gestational age OMIM:248110
Central Diabetes Insipidus
Nocturia, Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Prader-Willi syndrome (Type 1)
Truncal obesity, Feeding difficulties in infancy DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Feeding difficulties in infancy DECIPHER:53
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increa... ORPHA:3008
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increase... OMIM:263800
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Pollakisuria ORPHA:95626
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria, Rickets, R... OMIM:264700
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Recurrent fractures, Osteopenia, P... OMIM:163200
Webb-Dattani Syndrome
Neurogenic bladder, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflux, Hydronephrosi... OMIM:615926
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, El... OMIM:603233
Myasthenia Gravis
Systemic lupus erythematosus, Primary adrenal insufficiency, Rheumatoid arthritis, Dysphagia, Has... ORPHA:589
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Cystinuria, Fail... OMIM:606407
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Hyperparathyroidism, Osteolysis, Bone cyst, Recurrent fractures, ... ORPHA:93160
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypercalciuria, Hypermagne... ORPHA:73224
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis OMIM:614962
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease OMIM:618061
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Failure to... OMIM:615767
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoacidur... ORPHA:289157
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, De... ORPHA:85138
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Diabetes mellitus, Increased bone mineral density OMIM:602475
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Glycosuria, Failure to t... OMIM:210550
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Osteopenia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
Primary Parathyroid Hyperplasia
Osteoporosis, Hypophosphatemia, Parathyroid hyperplasia, Chondrocalcinosis, Polydipsia, Dysphagia... ORPHA:99878
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Renal insufficiency, Rickets, O... OMIM:219800
Hereditary Coproporphyria
Porphyrinuria, Atypical scarring of skin, Dark urine, Hyponatremia, Nephropathy, Abnormal circula... ORPHA:79273
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Autoimmunity, Primary adrenal in... ORPHA:95409
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insufficiency, Hyponatr... OMIM:300200
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Dysphagia, Hyponatremia, Hyperuricemia, Elevate... ORPHA:94093
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infan... ORPHA:99976
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria, Adrenal insufficiency OMIM:103230
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Pseudohypoparathyroi... ORPHA:94089
Parathyroid Carcinoma
Weight loss, Hypercalciuria, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Elevate... ORPHA:143
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Maturity-onset diabetes of the young, Glucose intolerance, Decreased n... OMIM:137920
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy, Organic aciduria, Hyperammonemia, Abnormal circulatin... ORPHA:6
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hypoglycemia, Failure to thrive ORPHA:67046
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine, Failure to thrive OMIM:237400
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, L... OMIM:612462
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hyperglycemia, Contractures of the joints of the lower limbs,... ORPHA:99885
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71526
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Thyroid carcinoma, Lipoma, Chondrocalcinosis, Parathyroid adenoma... ORPHA:99880
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney ORPHA:2611
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Acquired Partial Lipodystrophy
Insulin resistance, Autoimmunity, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resist... ORPHA:411593
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis OMIM:617671
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid conce... OMIM:608709
Hypercalcemia, Infantile, 1
Hypercalciuria, Nephrocalcinosis, Polyuria, Nephrolithiasis OMIM:143880
Apparent Mineralocorticoid Excess
Renal insufficiency, Polydipsia, Abnormality of circulating cortisol level, Decreased circulating... ORPHA:320
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Increased circulating renin level, Adrenal insufficiency, Proxi... ORPHA:427
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria, Type II diabetes mellitus ORPHA:3199
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
Preeclampsia
Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Small for gesta... ORPHA:275555
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239510
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoglycemia, Weight loss, Hypoinsulinemia, Reduced C-peptide level, Ur... ORPHA:2126
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, L... OMIM:103580
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Hyperbilirubinemia, Decreased response to ... OMIM:609734
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Urinary urgency OMIM:619027
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:329249
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism, Nephrolithiasis ORPHA:163693
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autoimmune Hypoparathyroidism
Hypocalcemia, Autoimmunity, Hypocalcemic tetany, Increased bone mineral density, Autoimmune antib... ORPHA:36913
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures,... OMIM:239000
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Galactosemia Iii
Hypergalactosemia, Galactosuria, Aminoaciduria, Failure to thrive OMIM:230350
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... OMIM:603358
Idiopathic Hypercalciuria
Renal calcium wasting, Osteoporosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Hypercholesterolemia, Elevated amniotic fluid alpha-f... OMIM:309000
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia OMIM:240200
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
X-Linked Hypophosphatemia
Hypophosphatemia, Renal phosphate wasting, Craniosynostosis, Cellulitis, Hypocalciuria, Rickets, ... ORPHA:89936
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Glomerulonephritis, Glomerular baseme... OMIM:104200
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
Valinemia
Hypervalinemia, Valinuria, Failure to thrive OMIM:277100
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia, Rickets, Recurrent fractures, Failure... OMIM:277440
Familial Hyperaldosteronism Type Iii
Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hy... ORPHA:251274
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulat... ORPHA:100924
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100985
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Recurrent fractures, Failure to thrive, Delayed epiphyseal ossificatio... OMIM:600081
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hypoglycemia, Hyperlipidemia, Delayed puberty, Failure to thrive, Osteopenia, Abnor... ORPHA:369
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, D... OMIM:614963
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Mildly... ORPHA:79102
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Decreased... ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hypoglycemia, Adrenal insufficie... OMIM:619386
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thrive, Nephrocal... OMIM:602722
Glycerol Kinase Deficiency
Osteoporosis, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficienc... OMIM:307030
Calciphylaxis
Cellulitis, Ectopic ossification, Stage 5 chronic kidney disease, Secondary hyperparathyroidism, ... ORPHA:280062
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Polyphagia, E... ORPHA:251004
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Adrenocorticotropin deficient adrenal insufficiency, Decreased... ORPHA:199299
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney dis... ORPHA:488627
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali... ORPHA:446
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, D... ORPHA:231580
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Decreased circulating antibody level, Co... OMIM:300635
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Decreased... ORPHA:95512
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia ORPHA:369873
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Nausea and vomiti... ORPHA:26790
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Hypothyroidism, Dysphagia, Decreased response to ... ORPHA:699
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Recurrent fractures, Aminoaciduria, Abnormal calcium-phosphate ... ORPHA:417
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232220
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci... OMIM:619281
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic aciduria, Methylmalonic acidemia, Dicarboxylic... ORPHA:289504
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentratio... ORPHA:79159
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Scarring, Hyponatremia, Chronic kidney disease, Abnormal circu... ORPHA:79473
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Lipo... ORPHA:329918
Propionic Acidemia
Organic aciduria, Hyperammonemia, Hypoglycemia ORPHA:35
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Atypical Werner Syndrome
Increased bone mineral density, Delayed puberty, Type II diabetes mellitus, Generalized lipodystr... ORPHA:79474
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Increased serum pyruvate, Hypoglycemia OMIM:614741
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Diabetes mellitus, Polyuria OMIM:560000
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Enamel-Renal Syndrome
Impaired renal concentrating ability, Abnormal dental enamel morphology, Amelogenesis imperfecta,... ORPHA:1031
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Hypoglycemia, Decreased... ORPHA:314811
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Re... ORPHA:469
Fibrous Dysplasia Of Bone
Hypophosphatemia, Osteolysis, Patchy reduction of bone mineral density, Elevated circulating grow... ORPHA:249
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Neonatal hypoglycemia... ORPHA:199296
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Weight loss, Autoimmune antibody p... ORPHA:398063
Mirage Syndrome
Radial club hand, Microphallus, Hypergonadotropic hypogonadism, Recurrent urinary tract infection... OMIM:617053
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogona... ORPHA:79444
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Glomerulopathy, Increased bone mineral density, Micr... ORPHA:77297
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Failure to t... OMIM:214700
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Hypoglycemia, Failure to thrive ORPHA:67048
Wolcott-Rallison Syndrome
Hypothyroidism, Hyperbilirubinemia, Hyponatremia, Central hypothyroidism, Decreased body weight, ... ORPHA:1667
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239500
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria, Diabetes mellitus OMIM:202900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Hypoglycemia ORPHA:664
Snakebite Envenomation
Pseudobulbar paralysis, Acute kidney injury, Hyponatremia, Hypopituitarism, Neuromuscular dysphagia ORPHA:449285
Hartsfield Syndrome
Craniosynostosis, Hypernatremia, Diabetes insipidus, Hypospadias, Micropenis, Gonadotropin defici... OMIM:615465
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Elevated hepatic tran... ORPHA:93111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis, Decreased response to... OMIM:614732
Opsismodysplasia
Hypophosphatemia, Renal phosphate wasting OMIM:258480
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Hypoglycemia, Ab... ORPHA:173
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia OMIM:248100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Failure to thrive, Increased urin... OMIM:619048
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Arthritis OMIM:216950
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Autoimmunity, Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormon... ORPHA:91354
Acute Intermittent Porphyria
Dysuria, Pseudobulbar paralysis, Dark urine, Elevated urinary delta-aminolevulinic acid, Hyponatr... ORPHA:79276
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Failure to thrive, Nephrocalcinosis, Hyper... OMIM:239199
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Tiglic Acidemia
Aminoaciduria OMIM:275190
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Renal cyst, Increased bone mine... OMIM:109130
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Hypergonadotropic hypogonadism, In... OMIM:230400
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoglycemia, 3-Methylglutaco... OMIM:618120
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogona... ORPHA:79443
Glycogen Storage Disease Ic
Xanthelasma, Hematuria, Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular fi... OMIM:232240
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Subperiosteal bone formation, Hyperostosis, Calcinosis, Nephrocalcinosis, Decr... OMIM:211900
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:30925
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Autoimmunity, Generalized lipodystrophy, Panniculitis, Abno... ORPHA:79086
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Carnosinemia
Carnosinuria OMIM:212200
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Melorheostosis
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Hyperaldos... OMIM:177735
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Hyponatremia, Increased circulating renin level, Weight loss, Failure to thrive in... ORPHA:171876
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hyperisoleucinemia, Hypog... ORPHA:2394
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Aminoaciduria OMIM:229100
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Failure to thrive OMIM:618426
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Isolated Osteopoikilosis
Ectopic kidney, Generalized osteosclerosis ORPHA:166119
Legionnaires Disease
Hematuria, Cellulitis, Hyponatremia, Renal insufficiency, Proteinuria ORPHA:549
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted diarrhea, Cholang... OMIM:209920
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Hypogly... ORPHA:90790
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Abcd Syndrome
Large for gestational age, Aganglionic megacolon OMIM:600501
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive, Autoimmunity OMIM:618495
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:610247
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Hypercholesterolemia, Elevated hepatic transaminase, Renal amyl... ORPHA:470
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Abnormal dental enamel morphology, Hematuria, Hypercalciuria, Delayed puber... ORPHA:534
Shigellosis
Acute kidney injury, Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Abnormal blood ion... ORPHA:810
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Summitt Syndrome
Obesity OMIM:272350
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed puberty, Do... OMIM:616033
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent fractures, Hypero... ORPHA:416
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Acute kidney injury, Hyperglycemia, Glycosuria,... ORPHA:466677
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Oligosacchariduria, Increased bone min... ORPHA:163649
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Decreased response to growth hormone stimuation test, Congenital hypoparathyroidism... OMIM:241410
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Small for gestational age, Diarrhea, Failure to thrive OMIM:614602
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Craniosynostosis, Unossified vertebral bodies, Elevated plasma pyro... OMIM:241500
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressi... ORPHA:403
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Proximal renal tubular acidosis, Hypoglycemia, Hyperalaninemia OMIM:266150
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Cranioectodermal Dysplasia 1
Osteoporosis, Enamel hypoplasia, Hypocalcemia, Joint laxity, Tubulointerstitial nephritis, Chroni... OMIM:218330
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinemia, Hyperlysinuria OMIM:238750
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Hyperammonemia, Hypoglycemia, Failure to thrive OMIM:614739
Halothane Hepatitis
Viral hepatitis, Hepatitis, Obesity OMIM:234350
Gitelman Syndrome
Hypocal