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
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... OMIM:616026
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... ORPHA:157215
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive OMIM:602722
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab... OMIM:241530
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... OMIM:613388
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Muscle weakness ORPHA:89937
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Primary hyperparathy... OMIM:239200
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Generalized muscle weakness, Rickets, Renal phosphate wasting, Hypophosphatemia, Hy... OMIM:193100
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:614732
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Oncogenic Osteomalacia
Hyperphosphaturia, Proximal muscle weakness, Fibrous dysplasia of the bones, Increased susceptibi... ORPHA:352540
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,... ORPHA:213
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed... OMIM:300554
Distal Renal Tubular Acidosis
Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo... ORPHA:18
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Renal phosphate wasting,... ORPHA:562
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... ORPHA:2239
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ano... OMIM:241500
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Proximal muscle we... OMIM:615883
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... OMIM:600740
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... OMIM:605899
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss ORPHA:69077
Central Diabetes Insipidus
Hyponatremia, Anorexia, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabete... ORPHA:178029
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... ORPHA:411634
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Adamantinoma
Hypercalcemia ORPHA:55881
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Ge... OMIM:264700
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive OMIM:611590
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Renal ... ORPHA:85138
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre... OMIM:610600
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet... ORPHA:97289
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Premat... ORPHA:199299
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... ORPHA:289157
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Anorexia, Renal salt wasting, Decreased... ORPHA:95409
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Parathyroid Carcinoma
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Testicular neoplasm, Primary... ORPHA:143
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163693
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Recurrent fractures, Precocious puberty, Ophthalmoplegia, Horsesho... OMIM:163200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... OMIM:241200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Agitati... ORPHA:276580
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Testicular neoplasm, Primary... ORPHA:99880
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Glutaric Acidemia Type 3
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... ORPHA:35706
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... OMIM:613677
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Renal phosphat... OMIM:307800
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Failure to thrive, Uraciluria OMIM:274270
Vitamin D-Dependent Rickets, Type 2A
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sp... OMIM:277440
Autosomal Dominant Hypocalcemia
Hypercalciuria, Depression, Reduced bone mineral density, Fatigable weakness, Nephrocalcinosis, H... ORPHA:428
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Renal agenesis, Cryptorchidism, Elbow flexion contractu... OMIM:618440
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, H... ORPHA:93160
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Large for ges... ORPHA:324575
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Lower-limb joint contracture, Distal muscle weakness, Muscle weakness OMIM:613710
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Azoosperm... OMIM:602390
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, Increased level of methy... ORPHA:26792
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Type I ... ORPHA:276575
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... ORPHA:251004
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... OMIM:309000
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Elevated circulating creati... OMIM:619743
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... OMIM:612462
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyperammonemia, 3-... OMIM:618120
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria... ORPHA:99845
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Generalized muscle weakness, Noc... OMIM:263800
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... OMIM:208085
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis ORPHA:436
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive OMIM:264350
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:203400
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Diffuse pancre... ORPHA:276556
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth ... OMIM:606407
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circulating ferritin... ORPHA:465508
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure to thrive OMIM:237310
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Generalized muscle weakness, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyper... ORPHA:276608
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density ORPHA:2611
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased ... OMIM:612780
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy, Decreased circ... OMIM:618573
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556037
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, ... OMIM:103580
Severe Canavan Disease
Lethargy, Poor head control, Oral-pharyngeal dysphagia, Joint stiffness ORPHA:314911
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Failure to ... OMIM:614736
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Hypercalcemia, Precocious... ORPHA:249
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... ORPHA:398063
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:236270
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... OMIM:222748
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Dysphagia, Lethargy, Failure to thrive, Muscle ... OMIM:613561
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L... OMIM:605711
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... ORPHA:534
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... OMIM:615398
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive ORPHA:500533
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Depressio... ORPHA:36913
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556030
Multiple Myeloma
Osteopenia, Hypercalcemia, Nephropathy, Generalized muscle weakness, Elevated circulating creatin... ORPHA:29073
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... ORPHA:31824
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Slender build OMIM:611087
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... ORPHA:97362
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Proximal muscle weakne... OMIM:212140
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia... ORPHA:653
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... ORPHA:95717
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency, Progressive external ophthalmoplegia ORPHA:254857
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... ORPHA:94089
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syn... OMIM:557000
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79444
Isolated Atp Synthase Deficiency
Ophthalmoplegia, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Mus... ORPHA:254913
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Anorexia, Hyperammonemia, Lethargy, Failure to thrive ORPHA:79312
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Lethargy, Micropenis, Premature adrenarche, Hypothalamic luteinizing hormone-releasin... ORPHA:398079
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Vipoma
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... ORPHA:97282
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Macroorchidis... ORPHA:90674
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Aggressive behavior, Compulsive behaviors, Attention deficit... ORPHA:476126
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar... OMIM:603896
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis OMIM:617105
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Holocarboxylase Synthetase Deficiency
Anorexia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy ORPHA:79242
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... OMIM:615751
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Pontocerebellar Hypoplasia, Type 6
Lethargy, Poor head control, Failure to thrive, Elbow contracture OMIM:611523
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... ORPHA:99832
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ophthalmoplegia OMIM:618683
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Propionic Acidemia
Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergl... OMIM:606054
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... OMIM:614857
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Small for gestational age OMIM:610498
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Lethargy OMIM:619064
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:913
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Failure to t... ORPHA:927
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, In... ORPHA:90041
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy, Ophthalmoplegia OMIM:618225
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, External ophthalmoplegia, Abnormal circulating ... OMIM:615838
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Muscle weakness, Anorexia OMIM:500007
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem... ORPHA:90791
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Lethargy, Micropeni... ORPHA:398069
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Ophthalmoplegia, Failure to thrive, Dysphagia OMIM:618226
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria OMIM:238970
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Primary amenorrhea, Hypocalcemia, Hypercholesterolemia OMIM:612526
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... OMIM:241410
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... OMIM:210200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy OMIM:312170
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Small for gestational age, Decreased ... ORPHA:699
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Lethargy, Hypothy... ORPHA:254892
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... OMIM:201475
Monosomy 13Q34
Fetal pyelectasis, Hypercalcemia, Obesity ORPHA:96168
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy OMIM:246900
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Congenital hypopar... ORPHA:93324
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... ORPHA:168558
Helix Syndrome
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... OMIM:617671
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Lethargy, Renal insufficiency, Hyperammonemia ORPHA:289916
Glucagonoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Ab... ORPHA:97280
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Ab... ORPHA:97283
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Osteoporosis, Hyperhomocystinemia, ... ORPHA:2169
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria, Failure to thrive OMIM:250620
Ppoma
Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Abnormality of the th... ORPHA:97278
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Progressive distal muscle weakness, Generalized... ORPHA:746
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... ORPHA:53
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia, Hyperphenylalaninemia OMIM:233910
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Ophthalmoparesis, ... OMIM:259700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippli... OMIM:101800
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive... OMIM:237300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... ORPHA:90795
Grfoma
Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Neoplasm of the thymu... ORPHA:97261
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e... ORPHA:90673
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Lethar... OMIM:212138
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Thyroiditis, Depression, Weight loss, Hypocalcemia, Infertility, Steatorrh... OMIM:212750
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Lethargy, Transient hyperlipidemia ORPHA:156
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... ORPHA:904
Meningococcal Meningitis
Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia,... ORPHA:33475
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Anorexia ORPHA:49827
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem... OMIM:210210
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Increased urinary gly... OMIM:307030
Citrullinemia Type I
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia ORPHA:247525
Raine Syndrome
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Neon... OMIM:259775
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Failure to thrive, Small for gestational age, Steatorrhea OMIM:260400
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Muscle weakness OMIM:175500
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Poor head control, Hyperglycinemia, Muscle weakness OMIM:614299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Micropenis, Medullary nephrocalcinosis, Hypospadias ORPHA:363528
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Maple Syrup Urine Disease
Lethargy, Increased level of hippuric acid in urine, Elevated circulating branched chain amino ac... OMIM:248600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... OMIM:251100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Hypogonadism, Lethargy, Decreased serum testosterone concentration, Failure... OMIM:201100
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Hyperammonemia ORPHA:27
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Letha... OMIM:251110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... OMIM:194050
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Hype... OMIM:277380
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia... ORPHA:2323
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Hypophosphatemic rickets, Medu... ORPHA:51608
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive OMIM:618005
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypospadias, Cryptorchidism, Hypocalcemia, Lethargy, Micropenis, Failu... OMIM:607143
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Abnormal ovarian physiology, Premature ... ORPHA:90794
Citrullinemia, Classic
Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma... OMIM:215700
Isolated Complex I Deficiency
Increased serum pyruvate, Poor head control, Diabetes mellitus, Proximal tubulopathy, Lethargy, F... ORPHA:2609
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... OMIM:614922
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Susac Syndrome
Lethargy, Apathy, Muscle weakness ORPHA:838
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Addictive alcohol use, ... ORPHA:36238
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Facial palsy, Proximal m... ORPHA:797
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... ORPHA:231625
Osteogenesis Imperfecta
Osteopenia, Small for gestational age, Recurrent fractures, Fractures of the long bones, Osteoart... ORPHA:666
Gracile Bone Dysplasia
Micropenis, Failure to thrive, Hypocalcemia OMIM:602361
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... ORPHA:116
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:277410
Crigler-Najjar Syndrome
Lethargy, Ophthalmoparesis ORPHA:205
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Oroticacidur... OMIM:311250
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... ORPHA:79284
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
External ophthalmoplegia, Flexion contracture, Ethylmalonic aciduria, Lethargy, Failure to thrive OMIM:201470
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to th... ORPHA:395
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Organic aciduria, Lethargy, 3-hyd... OMIM:253270
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvar... OMIM:244460
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abno... ORPHA:73223
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d... ORPHA:2237
Isovaleric Acidemia
Lethargy, Hyperglycinuria OMIM:243500
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Hypokalemia, Long penis, Increased C-peptide level ORPHA:769
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Argininosuccinic Aciduria
Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, ... OMIM:207900
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Anorexia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Apathy, Hyperuricemi... ORPHA:20
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... OMIM:617156
X-Linked Agammaglobulinemia
Osteomyelitis, Weight loss, Arthritis, Hypocalcemia, Failure to thrive ORPHA:47
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocal... ORPHA:93325
Sarcoidosis, Susceptibility To, 1
Anorexia, Bone cyst, Hypercalciuria, Weight loss, Arthritis OMIM:181000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Multifocal Atrial Tachycardia
Lethargy, Hypothyroidism, Cryptorchidism ORPHA:3282
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... ORPHA:667
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Transcobalamin Ii Deficiency
Lethargy, Methylmalonic aciduria, Failure to thrive, Muscle weakness OMIM:275350
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Hypospadias, Conjugated hyperbilirubinemia, Wide anterior fontanel, Cr... OMIM:614866
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Evans Syndrome
Lethargy, Muscle weakness ORPHA:1959
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Osteomyelitis, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocr... ORPHA:37042
Pyruvate Dehydrogenase Deficiency
Lethargy, Osteolytic defects of the middle phalanx of the 4th toe ORPHA:765
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Poor head control, Facial palsy, Cranial hyperostosis, Stillbirth... OMIM:259720
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Pseudoxanthoma Elasticum
Nephrocalcinosis ORPHA:758
Cystic Fibrosis
Male infertility, Failure to thrive, Hypercalciuria, Steatorrhea OMIM:219700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Necrotizing Enterocolitis
Hyponatremia, Lethargy, Small for gestational age ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy OMIM:604377
Cirrhosis, Familial
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Lethargy OMIM:215600
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu... OMIM:620306
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:342
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... ORPHA:275761
Ethylene Glycol Poisoning
Renal insufficiency, Facial palsy, Ophthalmoplegia, Hyperkalemia, Renal tubular epithelial necros... ORPHA:31826
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Premature ovarian insufficiency, Sma... ORPHA:221008
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
External ophthalmoplegia, Lethargy, Facial palsy, Dysphagia OMIM:607483
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... ORPHA:79282
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Poor head control, Hypospadias, Lacticaciduria, Lethargy, Hyperal... OMIM:252010
Biotinidase Deficiency
Lethargy, Limb muscle weakness, Organic aciduria, Hyperammonemia ORPHA:79241
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Joint laxity, H... ORPHA:821
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating crea... ORPHA:36234
Encephalitis Lethargica
Upper limb muscle weakness, Lethargy, Stiff neck, Urinary incontinence ORPHA:83600
Biotinidase Deficiency
Lethargy, Organic aciduria, Hyperammonemia OMIM:253260
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Rothmund-Thomson Syndrome
Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Increased... ORPHA:2909
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... ORPHA:2044
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnormal circulat... ORPHA:415
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia OMIM:235255
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Typhoid
Lethargy ORPHA:99745
Scrub Typhus
Lethargy, Renal insufficiency ORPHA:83317
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Igg4-Related Thyroid Disease
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... ORPHA:64744
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Rickets,... OMIM:613658
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Elevated circulating creatine kinase concentration, Proximal renal tubular a... ORPHA:2785
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Trichinellosis
Facial palsy, Ophthalmoplegia, Apathy, Dysphagia, Lethargy, Muscle weakness ORPHA:863
Double Outlet Right Ventricle
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypocalcemia ORPHA:3426
Ogden Syndrome
Lethargy, Cryptorchidism ORPHA:276432
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Ophthalmoplegia, Aggressive behavior OMIM:618321
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Joint hyperflexibility, Mucopolysacchariduria, Hypocalcemia, Abnor... ORPHA:175
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... ORPHA:99826
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Cryptorch... ORPHA:221016
Cutis Laxa, Autosomal Recessive, Type Iic
Nephrocalcinosis, Micropenis, Decreased body weight OMIM:617402
Arthrogryposis Multiplex Congenita 5
Medullary nephrocalcinosis OMIM:618947
Cranioectodermal Dysplasia 1
Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo... OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Amoebiasis Due To Free-Living Amoebae
Restlessness, Stiff neck, Facial palsy, Intrarenal abscess, Abnormality of the adrenal glands, Oc... ORPHA:68
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Bipolar affective disorder, Hyperthyroidism, Hypospadias, Cryptorchidism, Obe... ORPHA:567
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... OMIM:619534
Kufor-Rakeb Syndrome
Urinary incontinence, Generalized muscle weakness, Bradykinesia, Apathy, Dysphagia, Lethargy ORPHA:306674
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Ebola Hemorrhagic Fever
Lethargy, Dysphagia ORPHA:319218
Craniofacioskeletal Syndrome
Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating... OMIM:619991
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Aggressive behavior OMIM:192430
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Medulloblastoma
Total ophthalmoplegia, Lethargy ORPHA:616
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Bipolar affective disorder, Parathyroid agenesis, Decreased... OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... OMIM:619503
Hennekam Syndrome
Hypocalcemia, Horseshoe kidney, Ectopic kidney ORPHA:2136
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior... OMIM:620330
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329