Gene: Slc34a1 MGI:1345284

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 34 (sodium phosphate), member 1

Synonyms:

NaPi-IIa, Slc17a2, Na/Pi cotransporter, Npt2, renal Na+/Pi transporter

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc34a1 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.

Human diseases associated with Slc34a1 (5 diseases)
Human diseases predicted to be associated with Slc34a1 (513 diseases)

The table below shows human diseases associated to Slc34a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc...	OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia	OMIM:612286
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop...	ORPHA:157215
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff...	OMIM:613388
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica...	ORPHA:3337

The table below shows human diseases predicted to be associated to Slc34a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc...	OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria...	OMIM:308990
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Infantile hypercalcemia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Hy...	ORPHA:99879
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia	OMIM:612286
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis	OMIM:239199
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal phosphate wasting, Renal hypophosphatemia	OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ...	ORPHA:564178
Dent Disease 2	Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con...	OMIM:300555
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Aminoaciduria, Glycosuria, Large for gestational age, Proteinuria, Hyperphospha...	OMIM:616026
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine	ORPHA:94086
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,...	OMIM:601198
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop...	ORPHA:157215
Hypercalcemia, Infantile, 1	Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los...	OMIM:143880
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:602722
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Dent Disease 1	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria...	OMIM:300009
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff...	OMIM:613388
Fanconi-Bickel Syndrome	Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Generali...	OMIM:227810
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci...	ORPHA:1652
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Fanconi-Bickel Syndrome	Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciu...	ORPHA:2088
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia	OMIM:146200
Renal Tubular Acidosis, Distal, 1	Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c...	OMIM:179800
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Renal insufficiency, Proteinuria	ORPHA:2668
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Osteomalacia, Muscle weakness, Hyperphosphaturia, Rickets	ORPHA:89937
Hyperparathyroidism, Neonatal Severe	Recurrent fractures, Polydipsia, Hypophosphatemia, Failure to thrive, Aminoaciduria, Elevated cir...	OMIM:239200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo...	OMIM:611555
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Generalized mu...	OMIM:193100
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,...	OMIM:134600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, R...	OMIM:241530
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Hypomagnesemia 3, Renal	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci...	OMIM:248250
Pseudohypoparathyroidism, Type Ib	Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi...	OMIM:618913
Primary Hyperoxaluria Type 3	Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab...	ORPHA:93600
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis	OMIM:614473
Hypophosphatemic Rickets	Elevated circulating parathyroid hormone level, Hypocalciuria, Enthesitis, Renal phosphate wastin...	ORPHA:437
Hypervitaminosis A, Susceptibility To	Renal insufficiency, Hypercalcemia	OMIM:240150
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid...	OMIM:300554
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,...	OMIM:614732
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,...	ORPHA:35710
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones, Patholog...	ORPHA:352540
Distal Renal Tubular Acidosis	Polydipsia, Decreased glomerular filtration rate, Hypermagnesiuria, Proximal tubulopathy, Renal p...	ORPHA:18
Cystinosis	Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H...	ORPHA:213
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Male infertility, Hy...	ORPHA:2239
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary...	OMIM:248190
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis	OMIM:260000
Alport Syndrome 3, Autosomal Dominant	Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme...	OMIM:104200
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis	OMIM:156400
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hypocalciuric Hypercalcemia, Familial, Type I	Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia	OMIM:145980
Apparent Mineralocorticoid Excess	Failure to thrive, Hypokalemia, Abnormality of circulating cortisol level, Abnormal urine sodium ...	ORPHA:320
Hemochromatosis Type 2	Increased circulating ferritin concentration, Impotence, Abnormality of endocrine pancreas physio...	ORPHA:79230
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi...	OMIM:615883
Primary Hyperoxaluria Type 2	Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H...	ORPHA:93599
Mccune-Albright Syndrome	Abnormal endocrine physiology, Increased circulating prolactin concentration, Primary hypercortis...	ORPHA:562
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica...	ORPHA:3337
Primary Hyperoxaluria Type 1	Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin...	ORPHA:93598
Renal Tubular Acidosis Iii	Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis	OMIM:267200
Hypophosphatasia, Infantile	Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat...	OMIM:241500
Idiopathic Hypercalciuria	Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria	ORPHA:2197
Hypocalciuric Hypercalcemia, Familial, Type Ii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci...	OMIM:145981
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst...	OMIM:145001
Infantile Nephropathic Cystinosis	Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glyco...	ORPHA:411629
Vitamin D-Dependent Rickets, Type 3	Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary...	OMIM:300971
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis	OMIM:611590
Familial Hypocalciuric Hypercalcemia	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp...	ORPHA:405
Hypocalciuric Hypercalcemia, Familial, Type Iii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp...	OMIM:600740
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Rhabdoid Tumor	Weight loss, Hypercalcemia, Hematuria, Renal neoplasm	ORPHA:69077
Proximal Renal Tubular Acidosis	Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Glob...	ORPHA:47159
Adamantinoma	Hypercalcemia	ORPHA:55881
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc...	ORPHA:276580
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Increased bone mineral density, Hydrox...	OMIM:239000
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia...	ORPHA:411634
Cystinosis, Nephropathic	Polydipsia, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage ...	OMIM:219800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Secondary hyperparathyroidism, Recurrent fractures, Delayed epiphyseal ossification, Hypophosphat...	OMIM:264700
Bartter Syndrome, Type 1, Antenatal	Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro...	OMIM:601678
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia	ORPHA:2123
Bartter Syndrome Type 4	Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Hypokalemia...	ORPHA:89938
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l...	OMIM:610600
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr...	ORPHA:97289
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Fatigable weakness of swallowing mus...	ORPHA:436271
Glycerol Kinase Deficiency	Adrenal insufficiency, Coma, Small for gestational age, Increased urinary glycerol, Osteoporosis,...	OMIM:307030
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Flexion contracture, Progressive external ophthalmoplegia, External ophthalmop...	OMIM:201470
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp...	ORPHA:289157
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Loss of consciousness, Small for gestational age...	ORPHA:324575
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E...	ORPHA:94080
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Addison Disease	Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff...	ORPHA:85138
Parathyroid Carcinoma	Abnormality of the parathyroid morphology, Nephrolithiasis, Polydipsia, Hypophosphatemia, Thyroid...	ORPHA:143
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Loss of consciousness, Excessive insulin respons...	ORPHA:276575
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Failure to thrive, Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyp...	OMIM:613404
Wilson Disease	Glycosuria, Limb muscle weakness, Proteinuria, Hypouricemia, Hypoparathyroidism, Renal tubular dy...	OMIM:277900
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypokalemia, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Muscle ...	ORPHA:251274
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,...	ORPHA:95409
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria	ORPHA:163693
Central Diabetes Insipidus	Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Excessive daytime somnolence, Weight loss,...	ORPHA:178029
Schimmelpenning-Feuerstein-Mims Syndrome	Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Osteopenia, Horseshoe kidney, ...	OMIM:163200
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric...	OMIM:241520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F...	OMIM:600081
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A...	OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Rickets of the lower limbs, Hypophosphatemic rickets, Abnormality of ren...	ORPHA:289176
Bartter Syndrome, Type 2, Antenatal	Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Polydipsia, Renal juxtaglomerular c...	OMIM:241200
Hyperparathyroidism-Jaw Tumor Syndrome	Abnormality of the parathyroid morphology, Nephrolithiasis, Polydipsia, Hypophosphatemia, Thyroid...	ORPHA:99880
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal...	ORPHA:73224
Fructose Intolerance, Hereditary	Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria...	OMIM:229600
Hyperinsulinism Due To Ucp2 Deficiency	Loss of consciousness, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test...	ORPHA:276556
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi...	ORPHA:199299
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating ren...	OMIM:613677
Uremic Pruritus	Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp...	ORPHA:94059
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Recurrent fractures, Delayed epiphyseal ossification, Hypophosphat...	OMIM:277440
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Osteomalacia, Ab...	ORPHA:93160
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem...	ORPHA:284426
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ...	OMIM:220110
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype...	OMIM:211900
Oculoskeletodental Syndrome	Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H...	OMIM:618440
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc...	ORPHA:26792
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Amenorrhea, Infertility, Hypogonadotropic hypogonad...	OMIM:602390
Hyperlysinuria With Hyperammonemia	Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Dibasicaminoaciduria	OMIM:238750
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Fatigable weakness, Hypercalciuria, H...	ORPHA:428
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting	OMIM:614736
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Macroscopic hematuria, Memb...	ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concen...	OMIM:619386
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness of neck muscles, Coma, Hyperammonemia, Cachexia, Elevated circulating creatine...	ORPHA:42
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia, Proteinuria, Elevated urinary norepinephrine	OMIM:171420
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary ...	OMIM:208085
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Proximal muscle weakness, Stage 3 chr...	OMIM:619743
Multiple Endocrine Neoplasia Type 1	Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Impotence, Intestinal ...	ORPHA:652
Galactosemia	Failure to thrive, Reduced bone mineral density, Increased level of galactitol in plasma, Primary...	ORPHA:352
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Nephrocalcinosis	OMIM:615633
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp...	OMIM:617994
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Po...	OMIM:612780
Gitelman Syndrome	Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Polyuria...	OMIM:263800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hyperammonemia, Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, ...	OMIM:618120
Bartter Syndrome, Type 3	Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal...	OMIM:607364
Glycine Encephalopathy	Hyperglycinemia, Hyperglycinuria, Lethargy	OMIM:605899
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e...	ORPHA:276621
Genetic Recurrent Myoglobinuria	Dark urine, Recurrent myoglobinuria, Hypocalcemia, Lower limb muscle weakness, Oliguria, Hyperpho...	ORPHA:99845
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Coma, Hyperinsulinemic hypoglycemia, Drowsiness, Pancreatic islet-cell hyperpla...	ORPHA:276608
Oculocerebrodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
East Syndrome	Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving...	ORPHA:199343
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium...	OMIM:613090
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Glutaric Acidemia Type 3	Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci...	ORPHA:35706
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Uraciluria, Lethargy	OMIM:274270
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Distal muscle weakness, Muscle weakness, Lethargy	OMIM:613710
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Medullary Sponge Kidney	Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria	ORPHA:1309
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f...	ORPHA:263455
Hypophosphatasia	Recurrent fractures, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis	ORPHA:436
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ...	OMIM:602522
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:203400
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Infertility, Decrea...	ORPHA:465508
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Coma, Hyperammonemia, Renal insufficiency, Lethargy	ORPHA:28
Citrullinemia Type Ii	Fluctuations in consciousness, Acute hyperammonemia, Hyperlipidemia, Coma, Hypoproteinemia, Delay...	ORPHA:247585
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting	OMIM:618314
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany...	OMIM:612462
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio...	OMIM:606407
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem...	ORPHA:556037
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:145600
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Aminoaciduria, Joint hypermobility, Joint contracture of the hand, Proximal re...	OMIM:309000
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting	OMIM:264350
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany...	OMIM:103580
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ...	OMIM:237310
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy	OMIM:236270
Severe Canavan Disease	Joint stiffness, Poor head control, Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Insulinoma	Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper...	ORPHA:97279
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increa...	ORPHA:94089
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves disease, Episodic hypokalem...	ORPHA:79102
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Chronic kidney disease, Hypomagnesemia, Polyuria, Hyperechogenic kidneys, Prot...	OMIM:613845
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac...	OMIM:146255
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Primary Hyperoxaluria	Failure to thrive, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalci...	ORPHA:416
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia, W...	ORPHA:398063
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Infantile Myofibromatosis	Bone cyst, Abnormality of the kidney, Osteolysis, Hypercalcemia, Limitation of joint mobility	ORPHA:2591
Hypophosphatemic Bone Disease	Hypophosphatemia, Osteomalacia, Rickets	OMIM:146350
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy	ORPHA:79283
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem...	ORPHA:556030
Familial Hypoaldosteronism	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal...	ORPHA:427
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hypercalciuria, Osteoporosis, Large for gestational age, Renal cys...	OMIM:615398
Enamel-Renal Syndrome	Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi...	ORPHA:1031
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Nephrocalcinosis	OMIM:611087
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Hypercalcem...	ORPHA:29072
Fibrous Dysplasia Of Bone	Abnormality of the endocrine system, Hypophosphatemia, Thyroid carcinoma, Precocious puberty in f...	ORPHA:249
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Failure to thrive, Nephrocalcinosis	ORPHA:500533
Carnitine Deficiency, Systemic Primary	Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Muscle weakness, ...	OMIM:212140
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Sclerosis of skull base, Fractures of the long bones, Osteolysis, Hypercalcemi...	OMIM:602080
Colchicine Poisoning	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent...	ORPHA:31824
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Lethargy, Progressive external ophthalmoplegia	ORPHA:254857
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Lethargy	ORPHA:622
Autoimmune Hypoparathyroidism	Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Confusion, Calcium n...	ORPHA:36913
Multiple Endocrine Neoplasia Type 2	Nephrolithiasis, Medullary thyroid carcinoma, Parathyroid adenoma, Elevated urinary catecholamine...	ORPHA:653
Multiple Myeloma	Nephrotic syndrome, Osteopenia, Hyperproteinemia, Nephropathy, Pathologic fracture, Elevated circ...	ORPHA:29073
Hypothyroidism, Congenital, Nongoitrous, 7	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy	OMIM:618573
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Muscle weakness, Lethargy	OMIM:605711
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Pheochromocytoma	Hypercalcemia, Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis	OMIM:171300
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Failure to thrive, Ketonuria, Hyperlipidemia, Glycosuria, Lethargy	ORPHA:2089
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Lethargy	ORPHA:26
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level	OMIM:300539
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Congenital megaureter, Craniosynostosis, Osteopenia, Abno...	ORPHA:369837
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hyperalaninemia, Lethargy, Small for gestational age	OMIM:312170
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hyperammonemia, Hyperisoleu...	ORPHA:2394
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy	OMIM:615026
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss, Lethargy, Diabetes insipidus	ORPHA:30925
Pseudohypoparathyroidism Type 1C	Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:79444
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu...	ORPHA:927
Glut1 Deficiency Syndrome 1	Confusion, Paroxysmal lethargy, Lethargy	OMIM:606777
Multiple Carboxylase Deficiency	Coma, Hyperammonemia, Organic aciduria, Limb muscle weakness, Lethargy	ORPHA:148
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age	OMIM:617065
Idiopathic Congenital Hypothyroidism	Decreased circulating T4 concentration, Delayed proximal femoral epiphyseal ossification, Elevate...	ORPHA:95717
Multiple Endocrine Neoplasia Type 4	Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	ORPHA:95716
Early Myoclonic Encephalopathy	Dysphagia, Lethargy	ORPHA:1935
Classic Galactosemia	Reduced bone mineral density, Primary amenorrhea, Oligomenorrhea, Osteoporosis, Decreased fertili...	ORPHA:79239
Mitochondrial Complex I Deficiency, Nuclear Type 5	Dysphagia, Failure to thrive, Lethargy, Ophthalmoplegia	OMIM:618226
Tyrosinemia, Type I	Failure to thrive, Hypophosphatemic rickets, Elevated alpha-fetoprotein, Elevated urinary delta-a...	OMIM:276700
Carnitine Palmitoyltransferase I Deficiency	Coma, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concentration,...	OMIM:255120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ...	OMIM:174000
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Hyperbilirubinemia, 3-Methylglutaric aciduria, Small for gestational age, Stea...	OMIM:557000
Leukoencephalopathy With Vanishing White Matter	Primary amenorrhea, Secondary amenorrhea, Primary gonadal insufficiency, Premature ovarian insuff...	OMIM:603896
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce...	ORPHA:71212
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, External ophthalmopleg...	OMIM:615838
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	OMIM:300200
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypophosphatemia, Craniosynostosis, Reduced bone mineral density, Hypoca...	ORPHA:89936
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Oral aversion, Decreased glomerular filtration rate...	ORPHA:470
Zollinger-Ellison Syndrome	Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c...	ORPHA:913
Methylcobalamin Deficiency Type Cble	Failure to thrive, Hypomethioninemia, Hemolytic-uremic syndrome, Osteoporosis, Glomerulopathy, Hy...	ORPHA:2169
Vipoma	Elevated calcitonin, Pituitary adenoma, Hypokalemia, Abnormality of the thyroid gland, Elevated c...	ORPHA:97282
Propionic Acidemia	Failure to thrive, Coma, Hyperglycinuria, Hyperammonemia, Osteoporosis, Hyperglycinemia, Increase...	OMIM:606054
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Ophthalmoplegia	OMIM:618683
Oculocerebrorenal Syndrome Of Lowe	Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr...	ORPHA:534
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis	OMIM:204690
Mitochondrial Trifunctional Protein Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge...	OMIM:609015
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Calcinosis, Low u...	ORPHA:79443
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Lethargy	OMIM:617105
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Ketonuria, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine leve...	OMIM:210200
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Small for gestational age	OMIM:610498
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Coma, Hyperammonemia, Renal insufficiency, Lethargy	ORPHA:79312
Sim1-Related Prader-Willi-Like Syndrome	Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, Type II diabetes mellitus,...	ORPHA:398079
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Lethargy	OMIM:618228
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Overweight, Hypernatriuria, Hypertriglycerid...	ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Primary amenorrhea, Hypertriglyceridemia, Diabetes mellitus, Hypercholesterolemia	OMIM:612526
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Failure to thrive in infancy, Lethargy	OMIM:619064
Carnitine Palmitoyl Transferase 1A Deficiency	Coma, Renal tubular acidosis, Transient hyperlipidemia, Lethargy, Loss of consciousness	ORPHA:156
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia, Hypocalcemia	ORPHA:1438
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	ORPHA:361
Hereditary Fructose Intolerance	Chronic kidney disease, Hypophosphatemia, Coma, Renal insufficiency, Hyperuricemia, Hypermagnesem...	ORPHA:469
Citrullinemia Type I	Failure to thrive, Coma, Hyperammonemia, Elevated plasma citrulline, Lethargy, Loss of consciousness	ORPHA:247525
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Tubulointerstit...	OMIM:251000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, D...	OMIM:201475
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Meth...	OMIM:614857
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Holocarboxylase Synthetase Deficiency	Coma, Hyperammonemia, Organic aciduria, Weight loss, Lethargy	ORPHA:79242
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e...	ORPHA:730
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency	ORPHA:445038
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Coma, Hyperammonemia, Renal insufficiency, Lethargy	ORPHA:289916
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Poor head control, Muscle weakness, Lethargy	OMIM:614299
Pearson Syndrome	Hypoparathyroidism, Adrenal insufficiency, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoka...	ORPHA:699
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Lethargy	OMIM:617900
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypocalcemia, Coma, Lower limb muscle weakness, Muscle weakness, Generalized ...	ORPHA:746
Familial Isolated Hypoparathyroidism	Hypocalcemia, Nephropathy	ORPHA:2238
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Hypomethioninemia, Methylmalonic aciduria, Delirium, Confusion, Hematuria, Hom...	OMIM:277400
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hy...	OMIM:237300
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Congenital hypoparathyroidism, Hypocalc...	ORPHA:93324
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Lethargy	OMIM:613002
Helix Syndrome	Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagn...	OMIM:617671
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ...	ORPHA:90791
Carnitine-Acylcarnitine Translocase Deficiency	Coma, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, ...	OMIM:212138
Resistance To Thyrotropin-Releasing Hormone Syndrome	Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci...	ORPHA:99832
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Acute hyperammonemia, Ketonuria, Coma, Hyperglycinuria, Hyperammonemia, Hyperl...	OMIM:210210
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Hypocalcemia, Increased bone mineral density, Small for gestational age, Hype...	OMIM:127000
Classic Glucose Transporter Type 1 Deficiency Syndrome	Confusion, Lethargy	ORPHA:71277
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Coma, Hyperammonemia, Elevated creatine kinase ...	ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Ophthalmoplegia	OMIM:618225
Malignant Hyperthermia, Susceptibility To, 2	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154275
Cholera	Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Abnormal blood ion concentration, Acut...	ORPHA:173
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis	OMIM:259900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Congenital hypop...	OMIM:241410
Gitelman Syndrome	Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteroni...	ORPHA:358
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Hyp...	ORPHA:457059
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia, Urinary incontinence	ORPHA:476126
Albers-Schönberg Osteopetrosis	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr...	ORPHA:53
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Failure to thrive, Bradykinesia, Hyperthyroidism, External ophthalmoplegia, Quad...	ORPHA:254892
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis,...	OMIM:259700
Hereditary Amyloidosis With Primary Renal Involvement	Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti...	ORPHA:85450
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Meth...	OMIM:251110
Myxedema	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Muscle weakness, ...	OMIM:255900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir...	ORPHA:289548
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad...	OMIM:131100
Malignant Hyperthermia, Susceptibility To, 3	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154276
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir...	ORPHA:168558
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrolithiasis, Failure to thrive, Hyperlipidemia, Tubulointerstitial fibrosis, Enlarged kidney,...	ORPHA:79259
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hyperornithinemia, Coma, Hyperammonemia, Confusion, Lethargy	OMIM:238970
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr...	ORPHA:90674
Adrenocortical Hypofunction, Chronic Primary Congenital	Decreased circulating cortisol level, Hypernatriuria	OMIM:103230
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Monosomy 13Q34	Fetal pyelectasis, Infantile hypercalcemia, Obesity	ORPHA:96168
Maple Syrup Urine Disease	Coma, Elevated plasma branched chain amino acids, Increased level of hippuric acid in urine, Elev...	OMIM:248600
Vitamin B12-Unresponsive Methylmalonic Acidemia	Coma, Renal insufficiency, Lethargy, Hyperammonemia	ORPHA:27
Magel2-Related Prader-Willi-Like Syndrome	Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, Type II diabetes mellitus,...	ORPHA:398069
Leprechaunism	Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re...	ORPHA:508
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Meth...	OMIM:251100
Dopa-Responsive Dystonia	Poor head control, Fatigable weakness, Lethargy, Urinary incontinence	ORPHA:255
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Calvarial hyper...	OMIM:101800
Hyperphenylalaninemia, Bh4-Deficient, B	Dysphagia, Hyperphenylalaninemia, Lethargy	OMIM:233910
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Coma, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Lethargy	OMIM:201450
Somatostatinoma	Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul...	ORPHA:97283
Shwachman-Diamond Syndrome 1	Steatorrhea, Failure to thrive, Nephrocalcinosis, Small for gestational age	OMIM:260400
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Drowsiness, Renal insufficiency, Reduced c...	ORPHA:33475
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Cystathioninemia,...	OMIM:277380
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Hypokalemia, Precocious puberty, Decreased circulating cortis...	ORPHA:90795
Hypothyroidism Due To Tsh Receptor Mutations	Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin...	ORPHA:90673
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Coma, Elevated circulating creatine kinase concentration, Delirium,...	ORPHA:94093
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi...	ORPHA:411536
Ppoma	Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr...	ORPHA:97278
Raine Syndrome	Hypophosphatemia, Increased bone mineral density, Hydroureter, Neonatal death, Hydronephrosis, Su...	OMIM:259775
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,...	ORPHA:79106
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting	OMIM:613743
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Nephropathy, Renal insufficiency	ORPHA:1563
Intellectual Disability-Strabismus Syndrome	Medullary nephrocalcinosis, Failure to thrive, Hypospadias, Micropenis	ORPHA:363528
Alpha-Heavy Chain Disease	Hypocalcemia, Premature ovarian insufficiency	ORPHA:100025
Citrullinemia, Classic	Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Hypoargin...	OMIM:215700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir...	OMIM:600785
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper...	OMIM:608836
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, H...	OMIM:618183
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Muscle weakness, Decre...	ORPHA:231580
Cyclic Vomiting Syndrome	Muscle weakness, Lethargy	OMIM:500007
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr...	ORPHA:26793
Grfoma	Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr...	ORPHA:97261
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia	OMIM:600649
Mastocytosis	Recurrent fractures, Osteoporosis, Hypercalcemia	ORPHA:98292
Encephalopathy, Recurrent, Of Childhood	Lethargy	OMIM:130950
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Nephrocalcinosis	OMIM:618005
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased serum testosterone concentration, Decreased serum zinc, Hypogonadism...	OMIM:201100
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Ketonuria, Lethargy, Hyperammonemia	OMIM:615751
Glucagonoma	Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr...	ORPHA:97280
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy	OMIM:246900
Williams Syndrome	Osteopenia, Radioulnar synostosis, Proteinuria, Failure to thrive in infancy, Nephrolithiasis, Bl...	ORPHA:904
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Medullary nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosi...	ORPHA:51608
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aci...	OMIM:277410
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasm...	OMIM:311250
Isovaleric Acidemia	Hyperglycinuria, Coma, Lethargy	OMIM:243500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ...	ORPHA:90794
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr...	ORPHA:93110
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H...	ORPHA:423
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypocalcemia, Small for gestational age, Micropenis, Hypospadias	OMIM:607143
Senior-Boichis Syndrome	Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog...	ORPHA:84081
Sarcoidosis	Nephrolithiasis, Bone cyst, Hyperthyroidism, Abnormality of the adrenal glands, Hypercalciuria, H...	ORPHA:797
Susac Syndrome	Confusion, Muscle weakness, Lethargy	ORPHA:838
Celiac Disease, Susceptibility To, 1	Infertility, Failure to thrive, Hypocalcemia, Steatorrhea, Rickets, Osteoporosis, Type I diabetes...	OMIM:212750
Isolated Complex I Deficiency	Failure to thrive, Poor head control, Increased serum pyruvate, Muscle weakness, Proximal tubulop...	ORPHA:2609
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypocalcemia, Hypoplasia of penis, Congenital hypoparathyroidism, Patchy oste...	ORPHA:2323
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Micropenis	OMIM:602361
Argininosuccinic Aciduria	Failure to thrive, Oroticaciduria, Coma, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxica...	OMIM:207900
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Decreased body weight, Coma, Decreased urine output, Decreased glomerular...	ORPHA:340
Holocarboxylase Synthetase Deficiency	Organic aciduria, Coma, Lethargy, Hyperammonemia	OMIM:253270
Crigler-Najjar Syndrome	Ophthalmoparesis, Lethargy	ORPHA:205
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Failure to thrive, Hypomethioninemia, Homocystinuria, Lower limb muscle weakness, Hyperhomocystin...	ORPHA:395
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diabetes mellitus	ORPHA:49827
Osteogenesis Imperfecta	Nephrolithiasis, Recurrent fractures, Flexion contracture, Small for gestational age, Osteopenia,...	ORPHA:666
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu...	ORPHA:2237
Williams-Beuren Syndrome	Osteopenia, Radioulnar synostosis, Failure to thrive in infancy, Bladder diverticulum, Flexion co...	OMIM:194050
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Decreased ...	OMIM:244460
Rabson-Mendenhall Syndrome	Increased C-peptide level, Hypokalemia, Nephrocalcinosis, Long penis	ORPHA:769
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Neoplasm of the adrenal gland, Increased circulating cortisol level, Increased urina...	ORPHA:231625
Transcobalamin Ii Deficiency	Failure to thrive, Methylmalonic aciduria, Muscle weakness, Lethargy	OMIM:275350
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu...	ORPHA:83451
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Confusion, Increased circulating procalcit...	ORPHA:36238
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Muscle weakness	OMIM:175500
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentra...	ORPHA:79284
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Wide anterior fontanel, Congenital megaureter, Elevated alpha-fetoprotein, Nephr...	ORPHA:116
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia	OMIM:614207
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter, Lethargy	OMIM:274400
Idiopathic Intracranial Hypertension	Obesity, Lethargy	ORPHA:238624
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	ORPHA:226316
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy	OMIM:614922
Spinocerebellar Ataxia, X-Linked 3	Dysphagia, Muscle weakness, Lethargy	OMIM:301790
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis	OMIM:240300
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Hypocalcemia, Arthritis, Weight loss	ORPHA:47
Ethylene Glycol Poisoning	Renal tubular dysfunction, Hypocalcemia, Coma, Facial palsy, Confusion, Hematuria, Drowsiness, Re...	ORPHA:31826
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Coma, External ophthalmoplegia, Confusion, Dysphagia, Facial palsy, Lethargy	OMIM:607483
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec...	ORPHA:447
Hepatocellular Carcinoma	Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hypon...	ORPHA:88673
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bon...	ORPHA:667
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Delirium, Elevated circulating creatine kinase concentration, Confusion, Oliguria, ...	ORPHA:466650
Infantile Liver Failure Syndrome 2	Lethargy, Hyperammonemia	OMIM:616483
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Coma, 3-Methylglutaric aciduria, Hyperammonemia, Hypoglycemic coma, Hyperuricemia, Wei...	ORPHA:20
Cirrhosis, Familial	Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Lethargy	OMIM:215600
Evans Syndrome	Muscle weakness, Lethargy	ORPHA:1959
Timothy Syndrome	Hypothyroidism, Hypocalcemia	OMIM:601005
Pyruvate Dehydrogenase Deficiency	Lethargy, Osteolytic defects of the middle phalanx of the 4th toe	ORPHA:765
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Poor head control, Hyperbilirubinemia, Increased bone mineral density, Decreased os...	OMIM:259720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Hypocalcemia, Abnormality of the endocrine system, Nephrotic syndrome, Hyperthyro...	ORPHA:37042
Pseudoxanthoma Elasticum	Nephrocalcinosis	ORPHA:758
Familial Mediterranean Fever	Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria	ORPHA:342
Familial Tumoral Calcinosis	Nephrocalcinosis	ORPHA:53715
Necrotizing Enterocolitis	Lethargy, Hyponatremia, Small for gestational age	ORPHA:391673
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion, Recur...	ORPHA:36234
Central Neurocytoma	Coma, Lethargy	ORPHA:73256
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitoleyl...	ORPHA:79282
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hyperornithinemia, Coma, Oroticaciduria, Hyperammonemia, Abnormal circulating ...	ORPHA:415
Encephalitis Lethargica	Coma, Upper limb muscle weakness, Stiff neck, Lethargy, Urinary incontinence	ORPHA:83600
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Abnormal circulating follicle-stimulating hormone con...	ORPHA:93325
Scrub Typhus	Lethargy, Renal insufficiency, Reduced consciousness/confusion	ORPHA:83317
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Coma, Lethargy	OMIM:229700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Hypocalcemia	OMIM:618476
Dengue Fever	Lethargy, Hypoproteinemia	ORPHA:99828
Lysosomal Acid Lipase Deficiency	Failure to thrive, Steatorrhea, Cachexia, Abnormal urine potassium concentration, Hypertriglyceri...	ORPHA:275761
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Micropenis, Renal duplication, Hydronephrosis, Nephrocalcinosis	OMIM:268310
Dihydropyrimidinase Deficiency	Excessive daytime somnolence, Lethargy	OMIM:222748
Sarcoidosis, Susceptibility To, 1	Weight loss, Bone cyst, Hypercalciuria, Arthritis	OMIM:181000
Typhoid	Coma, Lethargy	ORPHA:99745
Visceral Steatosis, Congenital	Hypocalcemia, Coma, Neonatal death, Renal steatosis, Lethargy	OMIM:228100
Cystic Fibrosis	Failure to thrive, Male infertility, Hypercalciuria, Steatorrhea	OMIM:219700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re...	ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 1	Failure to thrive, Poor head control, Coma, 3-hydroxydicarboxylic aciduria, Lacticaciduria, Hypos...	OMIM:252010
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephroblastoma, Enlarged kidney, Nephrocalcinosis, Vesicou...	OMIM:130650
Acrodysostosis With Multiple Hormone Resistance	Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:280651
Floating-Harbor Syndrome	Small for gestational age, Renal agenesis, Hypospadias, Renal cyst, Polycystic kidney dysplasia, ...	ORPHA:2044
Trisomy 8P	Fetal pyelectasis, Nephrocalcinosis, Hydronephrosis, Micropenis	ORPHA:264450
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:90362
Biotinidase Deficiency	Organic aciduria, Lethargy, Hyperammonemia	OMIM:253260
Biotinidase Deficiency	Organic aciduria, Limb muscle weakness, Lethargy, Hyperammonemia	ORPHA:79241
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Hydronephrosis, Micropenis	OMIM:235255
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Osteopenia, Hypocalciuria, Joint laxity	ORPHA:73223
Trichinellosis	Confusion, Muscle weakness, Reduced consciousness/confusion, Dysphagia, Excessive daytime somnole...	ORPHA:863
Rothmund-Thomson Syndrome	Infertility, Reduced bone mineral density, Small for gestational age, Osteopenia, Abnormal trabec...	ORPHA:2909
Osteopetrosis With Renal Tubular Acidosis	Secondary hyperparathyroidism, Nephrolithiasis, Recurrent fractures, Hypocalcemia, Renal tubular ...	ORPHA:2785
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Hypospadias, Microscopic nephrocalcinosis, Infertility, Hypercalciuria	OMIM:219721
Igg4-Related Thyroid Disease	Abnormality of the pituitary gland, Hypocalcemia, Graves disease, Euthyroid goiter, Hypothyroidis...	ORPHA:64744
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Osteopenia, Abnormal trabecular bone morphology, Hypothyroidism, Hypog...	ORPHA:221008
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Coma, Decreased urine output, Nephrotic range proteinuria, Oliguria, Acute kidney i...	ORPHA:544482
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Hydronephrosis	ORPHA:1655
Marburg Hemorrhagic Fever	Hypokalemia, Coma, Orchitis, Hyperammonemia, Elevated circulating creatine kinase concentration, ...	ORPHA:99826
Cartilage-Hair Hypoplasia	Failure to thrive, Abnormal bone ossification, Hypocalcemia, Abnormally ossified vertebrae, Limit...	ORPHA:175
Ogden Syndrome	Excessive daytime somnolence, Lethargy	ORPHA:276432
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Failure to thrive, Hypocalcemia, Reduced bone mineral density, Small for gestation...	OMIM:613658
Double Outlet Right Ventricle	Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Sotos Syndrome	Hip contracture, Ankle flexion contracture, Flexion contracture, Craniosynostosis, Renal agenesis...	ORPHA:821
Arthrogryposis Multiplex Congenita 5	Medullary nephrocalcinosis	OMIM:618947
Pseudo-Torch Syndrome 2	Abnormal renal corticomedullary differentiation, Lethargy	OMIM:617397
Amoebiasis Due To Free-Living Amoebae	Coma, Intrarenal abscess, Oculomotor nerve palsy, Abnormality of the adrenal glands, Confusion, F...	ORPHA:68
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroidism, Ectopic...	OMIM:218700
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, ...	OMIM:619534
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis, Abnormal trabecular bone morphology, Hypocalcemic seizures	OMIM:612301
Cranioectodermal Dysplasia 1	Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Osteoporosis, Tubulointerst...	OMIM:218330
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Osteopenia, Synostosis involving bones of the upper limbs, Abnormal tr...	ORPHA:221016
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephroca...	OMIM:136140
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Abnormality of the urinary system, Nephrocalci...	ORPHA:79500
Kufor-Rakeb Syndrome	Bradykinesia, Confusion, Dysphagia, Generalized muscle weakness, Lethargy, Urinary incontinence	ORPHA:306674
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Ophthalmoplegia	OMIM:618321
Ebola Hemorrhagic Fever	Dysphagia, Lethargy	ORPHA:319218
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hydronephrosis	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Histiocytoid Cardiomyopathy	Failure to thrive, Renal cyst, Drowsiness, Lethargy, Loss of consciousness	ORPHA:137675
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h...	OMIM:619991
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Failure to thrive, Hypocalcemia, Hyperthyroidism, Hypospadias, Hypoplasia of ...	ORPHA:567
Semilobar Holoprosencephaly	Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim...	ORPHA:220386
Alobar Holoprosencephaly	Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim...	ORPHA:93926
Lobar Holoprosencephaly	Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim...	ORPHA:93924
Medulloblastoma	Total ophthalmoplegia, Lethargy	ORPHA:616
Complete Atrioventricular Septal Defect	Failure to thrive, Lethargy	ORPHA:1329
Hennekam Syndrome	Hypocalcemia, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Renal insufficiency, Hyperuricemia, Muscle...	ORPHA:97214
Glycine Encephalopathy	Hyperglycinemia, Lethargy	ORPHA:407
Thymic Aplasia	Failure to thrive, Hypocalcemic tetany, Recurrent urinary tract infections	ORPHA:83471
Hydranencephaly	Lethargy, Stiff neck, Atrophic pituitary gland	ORPHA:2177
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Hypomagnesemia, Hypocalcemia, Failure to thrive, Decreased response to growth ho...	OMIM:619503
Blackfan-Diamond Anemia	Small for gestational age, Renal agenesis, Hypospadias, Horseshoe kidney, Lethargy	ORPHA:124

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