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

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.

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.

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

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

Disease Similarity of
phenotypes
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