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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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 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus OMIM:222100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Large for gesta... OMIM:616026
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Familial Isolated Hyperparathyroidism
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, ... ORPHA:99879
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Nephropathy, Generalized aminoaciduria, Rickets, Glycosur... ORPHA:2088
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... OMIM:615605
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, ... OMIM:300009
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Rickets, Glycosuria, Beta 2-... OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... OMIM:612286
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... OMIM:612287
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Renal hypophosp... ORPHA:1652
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:613090
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Failure to thrive, Polydipsia, Os... ORPHA:18
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Polydip... ORPHA:223
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... OMIM:248250
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... ORPHA:2089
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:601678
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Large for gesta... ORPHA:263455
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Polydipsia, Ren... ORPHA:213
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl... OMIM:602522
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Polydipsia, Low-molecular-weight proteinur... ORPHA:411629
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia ORPHA:89937
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:241200
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Hyp... OMIM:239200
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria, Failure to thrive OMIM:606824
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi... ORPHA:2298
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... OMIM:618314
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Hypomagnesiuria, Osteo... ORPHA:405
Cataract 47
Glycosuria OMIM:612018
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Failu... OMIM:241530
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Polyuria, Diabetes insipidus, Hypernatremia OMIM:304800
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... ORPHA:47159
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Failure... ORPHA:97362
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi... OMIM:300554
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Dysphagi... OMIM:219800
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Glycosuria, Fai... OMIM:613404
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thy... ORPHA:94086
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Nephrocalcinosis, Pathologic fracture, Hyperphosphaturia, Hip contracture, Knee flexi... OMIM:156400
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiur... ORPHA:428
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Hydronephr... OMIM:615926
Oncogenic Osteomalacia
Renal phosphate wasting, Pathologic fracture, Hypocalcemia, Fibrous dysplasia of the bones, Hyper... ORPHA:352540
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Hyponatremia, Weight loss, Nocturia, Diabetes insipidus ORPHA:178029
Hypomagnesemia 2, Renal
Hypocalciuria, Chondrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, H... OMIM:154020
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Decrease... OMIM:143880
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone l... OMIM:612089
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Anorexia,... ORPHA:3008
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal phosphate wasting, Pseudo-fractures, Renal hypophospha... ORPHA:289176
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Aneurysmal bone cyst, Increased circulating cortisol... ORPHA:562
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Failure to thrive, Hyper... OMIM:229600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvis bone ossification,... ORPHA:166119
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Multiple small medullary renal cysts, Osteomal... OMIM:600740
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Obesity, Nausea and vomiting, Feeding difficulties in... ORPHA:99976
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting,... OMIM:264350
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Prader-Willi syndrome (Type 1)
Feeding difficulties in infancy, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Feeding difficulties in infancy, Truncal obesity DECIPHER:53
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp... OMIM:203400
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Polydipsia, ... OMIM:263800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy... OMIM:264700
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Pollakisuria ORPHA:95626
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Osteopenia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Re... OMIM:163200
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, H... OMIM:307800
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria OMIM:176200
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, H... OMIM:606407
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Nephrolithiasis ORPHA:163690
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:603233
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Anti-acetylcholine receptor antibody positivity, Systemic lupus... ORPHA:589
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... ORPHA:556037
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H... OMIM:605911
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia ORPHA:329249
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... ORPHA:556030
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Recurrent fractures OMIM:268315
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hereditary Coproporphyria
Nephropathy, Atypical scarring of skin, Dark urine, Increased urinary porphobilinogen, Abnormal c... ORPHA:79273
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Addison Disease
Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Renal salt wasting, Hyperkalemi... ORPHA:85138
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... ORPHA:94093
Acute Adrenal Insufficiency
Weight loss, Anorexia, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal ... ORPHA:95409
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Hyperaldosteronism, Renal sodium wasting, Salt craving, Poly... OMIM:612780
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hypoparathyroidism, Decreased circulating cerulop... OMIM:277900
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Increased phosphoribosylpyrophosphate synthe... ORPHA:411536
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Osteomalacia, Proximal renal tubular acidosis, Motor stereotypy, B... OMIM:309000
Leptin Deficiency Or Dysfunction
Micropenis, Polyphagia, Decreased serum leptin, Hypogonadism OMIM:614962
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Hypospadias, Elevated circulating 17-hydroxyprogesterone concentration, Fai... ORPHA:90791
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin... ORPHA:6
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Parathyroid Carcinoma
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... ORPHA:143
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy... ORPHA:289157
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Hyperur... OMIM:239000
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Failur... ORPHA:99885
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Polyuria, Parathyroi... OMIM:617994
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney ORPHA:2611
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre... OMIM:620366
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia OMIM:608688
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Sulfite oxidase deficiency, Recurrent urinary tract... ORPHA:3467
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:103580
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, G... OMIM:137920
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Jaundice, Incr... OMIM:121300
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... ORPHA:320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abnormal fear-induced behavior, Purple urine, Increased urinary porpho... ORPHA:100924
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... ORPHA:99880
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Urinary urgency OMIM:619027
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, R... ORPHA:2126
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus, Abnormal dental enamel morphology ORPHA:3199
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Acquired Partial Lipodystrophy
Insulin resistance, Autoimmunity, Proteinuria, Glomerulopathy, Microscopic hematuria, Lipoatrophy ORPHA:79087
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmunity, Autoimmune hypopar... ORPHA:36913
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Familial Hypoaldosteronism
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Decreased ci... ORPHA:427
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Impulsivity, Hyperactivity, Hypernatremia OMIM:620423
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Neonatal hypoglycemia, Abnor... ORPHA:90794
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency, Hyperglycemia OMIM:615986
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Anorexia, Adrenal insufficiency, Hyperglycinemia, Renal insufficienc... OMIM:619386
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... OMIM:617885
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... ORPHA:411593
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis, Decreased specific pneumococcal antibody level OMIM:617006
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Aggressive behavior, T... ORPHA:488627
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Elevated circulating hepatic transaminase concentration... ORPHA:84081
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... OMIM:600081
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Decreased circulating total IgA, A... OMIM:618969
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Failure to thrive, Glycosuria, Glucose intolerance, Renal tubular dysfunction, Elevated hemoglobi... OMIM:616539
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesem... ORPHA:79102
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... OMIM:603358
Galactosemia Iii
Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to thrive OMIM:230350
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
X-Linked Hypophosphatemia
Renal phosphate wasting, Cellulitis, Hypocalciuria, Rickets, Limitation of joint mobility, Genera... ORPHA:89936
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Hypoglycemia, Hyperlipidemia, Proteinuria, Delayed puberty, Abnorm... ORPHA:369
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Failure... OMIM:277440
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca... OMIM:602722
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insen... ORPHA:251274
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Recurrent fractures, Proteinuria, Polyphagia, Delayed... ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Neonatal Hemochromatosis
Abnormal localization of kidney, Increased circulating iron concentration, Hypoglycemia, Increase... ORPHA:446
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232200
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hy... ORPHA:280062
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormality of the urinary system, Abnormal cortical bone morphology ORPHA:2204
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Hypogonadism, ... ORPHA:85450
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hyperalaninemia, Failure to thrive, Hypoglycemia OMIM:617950
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Hypercalcemia, Hypercalciuria,... OMIM:614732
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Pearson Syndrome
Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insuff... ORPHA:699
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg... ORPHA:79474
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Autoi... ORPHA:398063
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Recurrent... ORPHA:417
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Proteinuria, Synovitis, ... ORPHA:77297
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h... ORPHA:1031
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... OMIM:613670
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Propionic Acidemia
Hyperammonemia, Organic aciduria, Hypoglycemia ORPHA:35
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine, Camptodactyly of toe, Camptodactyly of finger ORPHA:1325
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Mirage Syndrome
Microphallus, Hypoglycemia, Radial club hand, Recurrent urinary tract infections, Adrenal insuffi... OMIM:617053
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
Fibrous Dysplasia Of Bone
Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti... ORPHA:249
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Polyuria OMIM:560000
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Central hy... ORPHA:1667
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Ulcerative colitis, Decreased circulating IgA level, Crohn's dis... OMIM:618394
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Dec... OMIM:146200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... ORPHA:79444
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Hyponatremia ORPHA:449285
Combined Malonic And Methylmalonic Acidemia
Methylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Failure to thrive, Dicarboxylic acid... ORPHA:289504
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67048
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cholera
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... ORPHA:173
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i... ORPHA:79276
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Hypoglycemia ORPHA:664
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemi... OMIM:617913
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Ami... ORPHA:534
Preeclampsia
Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Elevated circulating creat... ORPHA:275555
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemi... ORPHA:79237
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... OMIM:214700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,... OMIM:239199
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated ci... OMIM:618120
Tenorio Syndrome
Osteopenia, Hypoglycemia, Joint hypermobility, Hypoinsulinemia, Enuresis OMIM:616260
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Increased urin... OMIM:619048
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Legionnaires Disease
Cellulitis, Renal insufficiency, Hematuria, Proteinuria, Hyponatremia, Anorexia ORPHA:549
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Renal insufficiency,... ORPHA:411543
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Renal cyst, O... OMIM:109130
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:30925
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Shigellosis
Acute kidney injury, Hypoglycemia, Urethritis, Failure to thrive in infancy, Hyponatremia, Arthri... ORPHA:810
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... ORPHA:79443
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... ORPHA:94059
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level OMIM:229100
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Systemic lupus erythematosus, Autoimmunity, Autoimmune hem... ORPHA:760
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Dentinogenesis imperfecta, Umbilical hernia, Recurrent fractures, Decreased bo... OMIM:614856
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin ORPHA:369929
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Micropenis OMIM:620439
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating cre... ORPHA:466677
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Ab... ORPHA:95427
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Elevate... OMIM:241500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... OMIM:179830
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroi... OMIM:618618
Hartsfield Syndrome
Gonadotropin deficiency, Micropenis, Craniosynostosis, Diabetes insipidus, Hypospadias, Hypernatr... OMIM:615465
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular p... OMIM:211900
Adiposis Dolorosa
Obesity, Constipation, Abdominal distention OMIM:103200
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Oligosacchariduria, Abnormal bone ... ORPHA:163649
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperbilirubinemia,... OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Intellectual Developmental Disorder, X-Linked 90
Attention deficit hyperactivity disorder, Enuresis OMIM:300850
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:610247
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Failure to thrive in infancy, Osteomyelitis, Increased circulat... ORPHA:171876
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Increased circulating lactate dehydrogenase co... ORPHA:470
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Hypoplasia of ... ORPHA:228402
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Arthritis, Elevated ci... ORPHA:247353
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Mic... OMIM:615547
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Sulfite oxidase deficiency, Aldehyde oxidase ... OMIM:252150
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,... OMIM:230400
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... ORPHA:3124
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:614739
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ... OMIM:608594
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Phosphohydroxylysinuria