Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 34 (sodium phosphate), member 1
renal Na+/Pi transporter,  Na/Pi cotransporter,  Slc17a2,  Npt2,  NaPi-IIa

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Failure to thrive, Nephrocalcinosis OMIM:239199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hyperphosphaturia, Hypophospha... ORPHA:157215
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Large for gestational age, Nephrocalc... OMIM:616026
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Infantile hypercalcemia, Nephrocalcinos... OMIM:143880
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thrive, Nephrocalcinosis OMIM:602722
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Muscle weakness, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glyc... OMIM:613388
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Hypokal... OMIM:227810
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria ORPHA:284400
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu... ORPHA:2088
Dent Disease
Renal insufficiency, Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperp... ORPHA:1652
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy ORPHA:2668
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Muscle weakness, Hyperphosphaturia, Rickets, Osteomalacia ORPHA:89937
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Recurrent fractures, Calcinosis, Hy... OMIM:239200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Muscle weakness, Renal phosphate wasting, Delayed epiphyseal ossification, Diff... OMIM:241530
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Muscle weakness, Hyperphosphaturia, Gait... ORPHA:352540
Wilson Disease
Osteoporosis, Coma, Dystonia, Joint hypermobility, Hyperphosphaturia, Proteinuria, Dysphagia, Ami... OMIM:277900
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Generalized muscle ... OMIM:193100
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Myopathy, Tubular Aggregate, 2
Muscle weakness, Hypocalcemia, Neck muscle weakness, Flexion contracture, Proximal muscle weaknes... OMIM:615883
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Pathologic fracture, Hypercalcemia, Waddling... OMIM:156400
Distal Renal Tubular Acidosis
Hypocitraturia, Hypercalciuria, Increased susceptibility to fractures, Muscle weakness, Low-molec... ORPHA:18
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating parathyroid ho... ORPHA:437
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophospha... OMIM:300554
Hypophosphatemia, Muscle weakness, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, Gait ... ORPHA:213
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Renal insufficiency, Parathyroid hyperplasia, Hyperphosp... ORPHA:99877
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Weight loss, Hypercalcemia, Failure to thrive, Renal insufficiency, Nep... ORPHA:35710
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormality of circulating cortisol level, Decreased circulating renin level... ORPHA:320
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Nephrolithiasis OMIM:145980
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Hemochromatosis Type 2
Increased circulating ferritin concentration, Muscle weakness, Osteoporosis, Lethargy, Abnormalit... ORPHA:79230
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Hypercalcemia, Polycystic... OMIM:145001
Idiopathic Hypercalciuria
Renal calcium wasting, Osteoporosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Unossified vertebr... OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increased renal tubular c... OMIM:145981
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Renal phosphate wasting OMIM:612089
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Isothenuria, Hypokalemia, Failure to thrive, Nephrocalcinosis OMIM:611590
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia, Elevated circulating parathyroid hormone level OMIM:619073
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Parathormone-independent increas... OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Generalized aminoacidu... OMIM:264700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Gait disturbance, Excessive daytime ... ORPHA:436271
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Hypercalcemia, Reduced r... ORPHA:405
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal Fanconi syndrome, Am... ORPHA:411629
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Weight loss ORPHA:69077
Hypercalcemia ORPHA:55881
Primary Parathyroid Hyperplasia
Hypophosphatemia, Muscle weakness, Parathyroid hyperplasia, Osteoporosis, Polydipsia, Dysphagia, ... ORPHA:99878
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Muscle weakness, Delayed epiphyseal ossification, Sparse bone tra... ORPHA:289157
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Muscle weakness, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Maternal diabetes, Diffuse ... ORPHA:276580
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Generalized musc... OMIM:601678
Glycerol Kinase Deficiency
Osteoporosis, Coma, Adrenocortical hypoplasia, Lethargy, Hypertriglyceridemia, Adrenal insufficie... OMIM:307030
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Renal salt wasting, Increased circulati... OMIM:610600
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, External ophthalmoplegia, Flexion contracture, Progressive external ophthalmoplegia, Fa... OMIM:201470
Parathyroid Carcinoma
Muscle weakness, Hypophosphatemia, Parathyroid carcinoma, Osteoporosis, Thyroid carcinoma, Polydi... ORPHA:143
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, De... ORPHA:85138
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Muscle weakness, Delayed epiphyseal ossification, Difficulty walking, Rickets, ... OMIM:600081
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Matern... ORPHA:324575
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri... ORPHA:94080
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperins... ORPHA:276575
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Familial Hyperaldosteronism Type Iii
Muscle weakness, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating reni... ORPHA:251274
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Hyperparathyroidism, Osteolysis, Gait disturbance, Bone cyst, Rec... ORPHA:93160
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Failure to thrive, Cystinuria ORPHA:163693
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Difficulty walking, Ri... OMIM:277440
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fanconi syndrome, Renal tu... OMIM:220110
Acute Adrenal Insufficiency
Muscle weakness, Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decre... ORPHA:95409
Central Diabetes Insipidus
Lethargy, Nocturia, Excessive daytime somnolence, Hyponatremia, Weight loss, Failure to thrive, D... ORPHA:178029
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Recurrent fractures, Ophthalmopleg... OMIM:163200
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Craniosynostosis, Hyperphosphaturia, Abn... ORPHA:289176
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Hyperparathyroidism-Jaw Tumor Syndrome
Muscle weakness, Hypophosphatemia, Osteoporosis, Thyroid carcinoma, Polydipsia, Dysphagia, Parath... ORPHA:99880
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Increased level of methylsuccinic acid in urine, Failure to thrive, Elevated ... ORPHA:26792
East Syndrome
Inability to walk, Difficulty walking, Lower limb muscle weakness, Enuresis, Increased circulatin... ORPHA:199343
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi... OMIM:229600
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Generalized musc... OMIM:241200
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hyperaldosteronism, Hypercalciuria,... ORPHA:73224
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Increased circula... OMIM:612780
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Hypogl... ORPHA:276556
Autosomal Dominant Hypocalcemia
Hypocalcemia, Reduced consciousness/confusion, Writer's cramp, Fatigable weakness, Hypercalciuria... ORPHA:428
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Nephropathy, Renal tubular acidosis, Failure to thrive, Nephrocalc... OMIM:613404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Hyperphosphatemia, Inc... OMIM:211900
Premature ovarian insufficiency, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1... ORPHA:352
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Late-Onset Isolated Acth Deficiency
Muscle weakness, Lethargy, Adrenocorticotropin deficient adrenal insufficiency, Decreased circula... ORPHA:199299
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Elevated circu... OMIM:307800
Glycine Encephalopathy
Hyperglycinuria, Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Gitelman Syndrome
Muscle weakness, Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increased ... OMIM:263800
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Hypercalcemia, Chronic kidney disea... ORPHA:284426
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Decreased plasma total carnitine, Ataxia, Proximal muscle weakness, Fatigable wea... ORPHA:42
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Coma, Lethargy, Hyperlysinemia, Hyperammonemia, Hyperlysinuria OMIM:238750
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Renal salt wasting OMIM:614736
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Lethargy, Azoospermia, Amenorrhea, Hyp... OMIM:602390
Oculoskeletodental Syndrome
Hypocalcemia, Mucopolysacchariduria, Hypercalciuria, Hypercalcemia, Small for gestational age, Re... OMIM:618440
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Multiple Endocrine Neoplasia Type 1
Coma, Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased ci... ORPHA:652
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Muscle weakness, Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... OMIM:618120
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Metacarpal periosteal thickening, Hypercalcemia, Elevated circulating pa... OMIM:617994
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Lethargy, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Adrenal insufficiency,... OMIM:619386
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Muscle weakness, Contractures of the joints of the lower limbs, Lethargy, Difficulty walking OMIM:613710
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Increased blood urea nitrogen, Polyphagia, Enlarged kidney, Recurrent fractures... ORPHA:251004
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin system, Increased... OMIM:607364
Hypotonia-Cystinuria Syndrome
Muscle weakness, Hypocalcemia, Polyphagia, Hypergonadotropic hypogonadism, Cystinuria, Facial pal... OMIM:606407
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Nephropathy, Renal tubular acidosis, Failure to thrive, Nephrocalc... OMIM:208085
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Coma, Delirium, Lethargy, Decreased body mass index, Enure... ORPHA:247585
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Increased bone density with cystic changes, Pseudohypoparathyroidism, Hypocalcemic ... ORPHA:94089
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Generalized muscle weakness, Dro... ORPHA:276608
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyperkalemia OMIM:203400
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia, Joint stiffness, Poor head control ORPHA:314911
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Lethargy, Reduced TSH response to thyrotrophin-releasing hormone ... OMIM:618573
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Failure to thrive ORPHA:79283
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocystinuria, Hyperhomocystin... OMIM:236270
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney ORPHA:2611
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Glycos... ORPHA:263455
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Tyrosinemia, Type I
Hypertyrosinemia, Enlarged kidney, Hypophosphatemic rickets, Glomerular sclerosis, Hypermethionin... OMIM:276700
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Low urinary cyclic A... OMIM:612462
Recurrent fractures, Craniosynostosis, Hypercalcemia, Failure to thrive in infancy ORPHA:436
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Muscle weakness, Osteoporosis, Lethargy, Infertilit... ORPHA:465508
Fibrous Dysplasia Of Bone
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Patholog... ORPHA:249
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperaldosteronism, Failure to thrive, Hyperkalemia OMIM:264350
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
N-Acetylglutamate Synthase Deficiency
Coma, Lethargy, Increased level of L-glutamic acid in blood, Confusion, Failure to thrive, Hypera... OMIM:237310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Osteopenia, Ataxia, Hypercalciuria, Renal cyst, Ureteral stenosis, Large for gestat... OMIM:615398
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy, Ataxia ORPHA:622
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Neoplasm of the adre... ORPHA:97279
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Low urinary cyclic A... OMIM:103580
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Chronic kidney disease, Failure to thr... OMIM:613845
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Confusion, Laryngeal dystonia,... ORPHA:36913
Classic Galactosemia
Osteoporosis, Premature ovarian insufficiency, Dystonia, Lethargy, Decreased fertility in females... ORPHA:79239
Infantile Myofibromatosis
Abnormality of the kidney, Osteolysis, Bone cyst, Hypercalcemia, Limitation of joint mobility ORPHA:2591
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy, Hyperalaninemia, Small for gestational age OMIM:312170
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypo... ORPHA:398063
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with toxic single t... ORPHA:79102
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis OMIM:611087
Multiple Endocrine Neoplasia Type 2
Muscle weakness, Parathyroid hyperplasia, Paraganglioma of head and neck, Joint laxity, Elevated ... ORPHA:653
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Familial Hypoaldosteronism
Lethargy, Hyponatremia, Renal salt wasting, Increased circulating renin level, Adrenal insufficie... ORPHA:427
Cirrhosis, Familial
Lethargy, Increased level of L-fucose in urine, Increased level of propylene glycol in blood OMIM:215600
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Joint hypermobility, Camptodacty... OMIM:309000
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Dysphagia, Ataxia, Ophthalmoplegia, Failure to thrive OMIM:618226
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy, Progressive external ophthalmoplegia ORPHA:254857
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Coma, Muscle weakness, Lethargy, Excessive daytime somnolence, Confus... OMIM:212140
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Polyphagia, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadis... ORPHA:79444
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated plasma branched chain amino acids, Hyperisoleucine... ORPHA:2394
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Failure to thrive ORPHA:172
Cushing Disease
Osteoporosis, Infertility, Premature ovarian insufficiency, Lethargy, Recurrent fractures, Trunca... ORPHA:96253
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Hyperglutaminemia, Delirium, Lethargy, Ataxia, Acute hyperammonemia, Confusion, Drowsiness,... ORPHA:927
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive ORPHA:500533
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Glycosuria, Failure to thrive, Ketonuria, Hyperlipidemia ORPHA:2089
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Multiple Carboxylase Deficiency
Coma, Lethargy, Ataxia, Organic aciduria, Hyperammonemia, Limb muscle weakness ORPHA:148
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Urinary incontinence... ORPHA:255
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Craniosynostosis, Congenital megaureter, Abnormality of the urinary system, ... ORPHA:369837
Multiple Mitochondrial Dysfunctions Syndrome 1
Muscle weakness, Lethargy, Failure to thrive OMIM:605711
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Paget Disease Of Bone 5, Juvenile-Onset
Muscle weakness, Osteoporosis, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractur... OMIM:239000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Elevated urinary norepinephrine, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy, Weight loss, Diabetes insipidus ORPHA:30925
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia OMIM:618224
Early Myoclonic Encephalopathy
Dysphagia, Lethargy ORPHA:1935
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Failure to thrive, Hyperammonemia, Elevated plasma citrullin... ORPHA:247525
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Lethargy, Gait disturbance, Primary amenorrhea, Unsteady gait, S... OMIM:603896
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Eleva... ORPHA:95717
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Familial Thyroid Dyshormonogenesis
Lethargy, Goiter, Increased radioactive iodine uptake, Delayed proximal femoral epiphyseal ossifi... ORPHA:95716
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, In... ORPHA:79443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ophthalmoplegia, Ataxia, Bradykinesia OMIM:618683
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture OMIM:617105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Hyperglycinemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmalo... OMIM:251000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:79312
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy, Renal tubular acidosis, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Coma, Hyperglutaminemia, Oral... ORPHA:470
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lethargy, Hyperinsulinemic hypoglycemia, Abnormal circulating acetylc... ORPHA:71212
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
X-Linked Hypophosphatemia
Hypophosphatemia, Renal phosphate wasting, Craniosynostosis, Hypocalciuria, Rickets, Generalized ... ORPHA:89936
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hematuria, Hypercalciuria, Delayed puberty, Joint stiffness, Renal insuffic... ORPHA:534
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Azoospermia, Oligospermia, Decreased circulating cortisol level, Primary adre... OMIM:300200
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Increased urinary cortisol level, Pituitary growth hormone cell adenoma,... ORPHA:913
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Propionic Acidemia
Osteoporosis, Coma, Dystonia, Lethargy, Hyperglycinemia, Hyperglycinuria, Failure to thrive, Hype... OMIM:606054
Methylcobalamin Deficiency Type Cble
Osteoporosis, Lethargy, Excessive daytime somnolence, Glomerulopathy, Hemolytic-uremic syndrome, ... ORPHA:2169
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Renal tubular dysfunction, Renal insufficiency, Hyperammonemia ORPHA:289916
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Ataxia, Weight loss, Organic aciduria, Hyperammonemia ORPHA:79242
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Generalized muscle weakness, Elevated circulating acylcarnitine concentration, Small fo... OMIM:609015
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Primary amenorrhea, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia, Cachexia ORPHA:1438
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Infertility, Lethargy, Hypogonadotropic hypogonadism, Polyphagia, Premature pubarch... ORPHA:398079
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Episodic ataxia, Hyperglutaminemia, Lethargy, Ataxia, Failure to thr... OMIM:311250
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Muscle weakness, Poor head control, Lethargy, Ataxia OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Hereditary Fructose Intolerance
Hypophosphatemia, Coma, Hypermagnesemia, Lethargy, Hyperuricemia, Chronic kidney disease, Renal i... ORPHA:469
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Lethargy, Ataxia ORPHA:71277
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Hypophosphatemia, Renal phosphate wasting OMIM:258480
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Dysphagia, Hypothyroidism, Decreased response to ... ORPHA:699
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Renal tubular acidosis, Loss of consciousness, Transient hyperlipidemia ORPHA:156
Mitochondrial Trifunctional Protein Deficiency
Muscle weakness, Hypocalcemia, Coma, Lethargy, Progressive distal muscle weakness, Lower limb mus... ORPHA:746
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Hypoargininemia, Lethargy, Ataxia, Failure to thrive, Hyperammonemia... OMIM:237300
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Muscle weakness, Lethargy, External ophthalmoplegia, Gait disturbance, Ataxia, Failure to thrive OMIM:615838
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Wide anterior fontanel, Failure to thrive in infancy, Hyperalaninemia, Hyperprolinemia OMIM:619064
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria, Obesity ORPHA:34527
Ebola Hemorrhagic Fever
Coma, Lethargy, Metrorrhagia, Renal insufficiency, Proteinuria ORPHA:319218
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Muscle weakness, Lethargy, Dicarboxylic aciduria, Elevated circulatin... OMIM:201475
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ophthalmoplegia, Ataxia OMIM:618225
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Nephrocalcinosis, Renal cyst, 3-Methylglutaconic aciduria ORPHA:445038
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Renal insufficiency, Nephrocalcinosis OMIM:259900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Hematuria, Lethargy, Cystathioninuria, Nephropathy, Confusion, Hemolytic-uremic syndrom... OMIM:277400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Acute hyperammonemia, Failure to thrive, Ketonuria OMIM:210200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Decreased serum testosterone concentration, Failure to thrive, Hypogonadism OMIM:201100
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Congenital hypopar... ORPHA:93324
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, ... OMIM:617671
Muscle weakness, Hypocalcemia, Abnormality of renal excretion, Lethargy, Acute kidney injury, Hyp... ORPHA:173
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Patchy osteosclerosis, Congenital hypoparathyroidism, Micropenis, Hyperphosphatemia... OMIM:241410
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Nocturia, Shoulder girdle muscle weakness, Elevated circulating creatin... ORPHA:254892
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Increased bone mineral density, Small for gestational a... OMIM:127000
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age OMIM:610498
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circula... ORPHA:99832
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Delayed puberty, Type II dia... ORPHA:358
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit le... ORPHA:90674
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Muscle weakness, Coma, Lethargy, Elevated creatine kinase after exerc... ORPHA:159
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Osteomyelitis, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Fac... OMIM:259700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Urinary incontinence, Hypercalcemia, Failure to thrive, Attention deficit hyperactiv... ORPHA:476126
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Facial p... ORPHA:53
Maple Syrup Urine Disease
Coma, Lethargy, Elevated plasma branched chain amino acids, Ataxia, Elevated circulating L-allois... OMIM:248600
Cyclic Vomiting Syndrome
Muscle weakness, Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Lujo Hemorrhagic Fever
Coma, Lethargy ORPHA:319213
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Renal insufficiency, Hyperammonemia ORPHA:27
Methylmalonic Aciduria, Cblb Type
Coma, Hyperammonemia, Lethargy, Hyperglycinemia, Methylmalonic aciduria, Methylmalonic acidemia, ... OMIM:251110
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Hyperornithinemia, Confusion, Failure to thrive, Hyperammonemia OMIM:238970
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Muscle weakness, Lethargy, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormo... OMIM:255900
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia OMIM:246900
Hyperphenylalaninemia, Bh4-Deficient, B
Dysphagia, Hyperphenylalaninemia, Lethargy, Dystonia OMIM:233910
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:168558
Marburg Hemorrhagic Fever
Menometrorrhagia, Lethargy, Hematuria, Weight loss ORPHA:99826
Long penis, Enlarged kidney, Increased circulating renin level, Decreased body weight, Hyperaldos... ORPHA:508
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Methylmalonic aciduria, Methylmalonic acidemia, Homocystinuria, Hyperhomocystinemia OMIM:614857
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acid... OMIM:277410
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Infertility, Lethargy, Polyphagia, Premature pubarche, Central hypothyroidism, Hypo... ORPHA:398069
Methylmalonic Aciduria, Cbla Type
Coma, Hyperammonemia, Lethargy, Hyperglycinemia, Methylmalonic aciduria, Methylmalonic acidemia, ... OMIM:251100
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Small for gestational age, Steatorrhea, Failure to thrive OMIM:260400
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Carnitine-Acylcarnitine Translocase Deficiency
Muscle weakness, Coma, Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase conc... OMIM:212138
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Epiphyseal stip... OMIM:101800
Neuroleptic Malignant Syndrome
Hypocalcemia, Coma, Delirium, Acute kidney injury, Hypernatremia, Dysphagia, Hyponatremia, Elevat... ORPHA:94093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, H... ORPHA:79259
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy, Acute hyperammonemia, Hyperglycinuria, Failure to thrive, Organic aciduria, Keton... OMIM:210210
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Monosomy 13Q34
Infantile hypercalcemia, Fetal pyelectasis, Obesity ORPHA:96168
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Premature ad... ORPHA:90795
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Hydroureter, Increased bone mineral density... OMIM:259775
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Cystathioninuria, Methylmalonic aciduria, Methylmalonic acidemia, Failure to thrive, Ho... OMIM:277380
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Coma, Medium chain dicarboxylic aciduria, Lethargy, Hyperglycinuria OMIM:201450
Meningococcal Meningitis
Lethargy, Reduced consciousness/confusion, Drowsiness, Elevated circulating C-reactive protein co... ORPHA:33475
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Renal insufficiency, Nephropathy ORPHA:1563
Citrullinemia, Classic
Coma, Hypoargininemia, Hyperglutaminemia, Lethargy, Ataxia, Failure to thrive, Oroticaciduria, Hy... OMIM:215700
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Lethargy, Increased radioactive iodine uptake, Delayed proximal femor... ORPHA:90673
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Williams Syndrome
Joint laxity, Recurrent urinary tract infections, Abnormal circulating lipid concentration, Failu... ORPHA:904
Primary Unilateral Adrenal Hyperplasia
Muscle weakness, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteroni... ORPHA:231580
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Elevated circulating para... OMIM:600785
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Infertility, Rickets, Thyroiditis, Weight loss, Ataxia, Steatorrhea, ... OMIM:212750
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Gait disturbance, Lower limb muscle weakness, Ataxia, Hypomethioninemia, Failure to thr... ORPHA:395
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Dysphagia, Gait disturbance, Loss of ability to walk, Flexion ... ORPHA:666
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Lethargy, Decreased plasma total carnitine, Enlarged kidney, Ureteral ... OMIM:608836
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Ketonuria, Lethargy OMIM:615751
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Osteoporosis, Recurrent fractures, Hypercalcemia ORPHA:98292
Susac Syndrome
Muscle weakness, Confusion, Lethargy, Gait ataxia ORPHA:838
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Renal dysplasia, Hypoalbuminemia, Hyp... OMIM:618183
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Hypophosphatemic rickets, Failure to thrive in infancy, Cortical nephrocalcino... ORPHA:51608
Williams-Beuren Syndrome
Joint laxity, Recurrent urinary tract infections, Failure to thrive in infancy, Hypercalciuria, V... OMIM:194050
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive OMIM:618005
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Overweight, Small for gestational age, Increased circula... ORPHA:26793
Isolated Complex I Deficiency
Muscle weakness, Lethargy, Increased serum pyruvate, Proximal tubulopathy, Ataxia, Failure to thr... ORPHA:2609
Argininosuccinic Aciduria
Coma, Hypoargininemia, Hyperglutaminemia, Lethargy, Aminoaciduria, Ataxia, Failure to thrive, Oro... OMIM:207900
Isovaleric Acidemia
Hyperglycinuria, Coma, Lethargy OMIM:243500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy OMIM:600649
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Sanjad-Sakati Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypoplasia of penis, Hypoparathyroidism, Hyperphosph... ORPHA:2323
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, External ophthalmoplegia, Dysphagia, Cr... OMIM:607483
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Transcobalamin Ii Deficiency
Muscle weakness, Lethargy, Ataxia, Methylmalonic aciduria, Failure to thrive OMIM:275350
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:2237
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia, Long penis, Nephrocalcinosis ORPHA:769
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Small for gestational age, Failure to thrive, Hypospadias, Micropenis OMIM:607143
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia, Hyperp... ORPHA:423
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Osteolytic defects of the middle phalanx of the 4th toe, Gait disturbance, At... ORPHA:765
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Posterior Urethral Valve
Dysuria, Lethargy, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilate... ORPHA:93110
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Muscle weakness, Increased circulating cortisol level, Neoplasm of the adrenal gland, Increased u... ORPHA:231625
Intellectual Disability-Strabismus Syndrome
Hypospadias, Micropenis, Failure to thrive, Medullary nephrocalcinosis ORPHA:363528
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Congenital hypoparathyroidism, Decreased skull ossification, Hypomagnesemia, Calvar... OMIM:244460
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus ORPHA:49827
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Unilateral renal agenesis, Methylmalonic aciduria, Failure to thrive, Elevated circulat... ORPHA:79284
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Hyperbilirubinemia, Osteopetrosis, Absence of renal corticomedullary di... OMIM:259720
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Wide anterior fontanel, Enlarged kidney, Pseudohypoparathyroidism, Congenit... ORPHA:116
Rift Valley Fever
Coma, Lethargy, Limitation of joint mobility, Weight loss ORPHA:319251
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Lethargy, Coma OMIM:253270
Crigler-Najjar Syndrome
Lethargy, Ophthalmoparesis ORPHA:205
Hypothyroidism, Bone cyst, Weight loss, Proximal muscle weakness, Hyperthyroidism, Hypercalciuria... ORPHA:797
Spinocerebellar Ataxia, X-Linked 3
Muscle weakness, Dysphagia, Lethargy, Dysmetria OMIM:301790
Ethylene Glycol Poisoning
Hypocalcemia, Coma, Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Atax... ORPHA:31826
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Muscle weakness, Hypocalcemia, Hypokalemia, Cachexia, Hypomagnesemia OMIM:175500
Thyroid Dyshormonogenesis 1
Hypothyroidism, Lethargy, Goiter OMIM:274400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis, Ataxia OMIM:618476
Gracile Bone Dysplasia
Hypocalcemia, Micropenis, Failure to thrive OMIM:602361
X-Linked Agammaglobulinemia
Hypocalcemia, Weight loss, Failure to thrive, Osteomyelitis, Arthritis ORPHA:47
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Con... ORPHA:280651
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Staphylococcal Necrotizing Pneumonia
Lethargy, Increased circulating procalcitonin concentration, Confusion, Elevated circulating C-re... ORPHA:36238
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Hyperornithinemia, Abnormal circulating citrulline concentration, Confusion, Prog... ORPHA:415
Yellow Fever
Lethargy, Nephropathy, Menometrorrhagia, Oliguria, Renal insufficiency, Spontaneous abortion, Pro... ORPHA:99829
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Hyperammonemia, Lethargy, 3-Methylglutaric aciduria, Hypoglycemic coma, Hyperuricemia, Atax... ORPHA:20
Exercise-Induced Malignant Hyperthermia
Muscle weakness, Hypocalcemia, Delirium, Lethargy, Acute kidney injury, Ataxia, Confusion, Oligur... ORPHA:466650
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis OMIM:300990
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Primary Intestinal Lymphangiectasia
Osteoporosis, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Failure to thrive ORPHA:90362
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Osteomyelitis, Decreased prealbumin level, Thyroiditis, Hypothyroidism, Membranous ... ORPHA:37042
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Lethargy, Ketonuria, Ataxia, Glomerulopathy, Hemolytic-uremic syndrome, Hypomethioninem... ORPHA:79282
Evans Syndrome
Muscle weakness, Lethargy ORPHA:1959
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Recurrent urinary tract infections, ... ORPHA:36234
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic tetany, Cortical th... ORPHA:93325
Timothy Syndrome
Hypocalcemia, Hypothyroidism OMIM:601005
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Necrotizing Enterocolitis
Lethargy, Hyponatremia, Small for gestational age ORPHA:391673
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Joint laxity, Hypocalciuria, Osteopenia, Hypophosphaturia, Attention deficit hyperactivity disorder ORPHA:73223
Coma, Lethargy, Ataxia ORPHA:99745
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bon... ORPHA:667
Pseudoxanthoma Elasticum
Nephrocalcinosis ORPHA:758
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Weight loss, Hypokalemia, Hypercalcemia, Hypoalbuminemia, Type ... ORPHA:88673
Scrub Typhus
Renal insufficiency, Lethargy, Reduced consciousness/confusion ORPHA:83317
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Visceral Steatosis, Congenital
Hypocalcemia, Coma, Lethargy, Renal steatosis, Neonatal death OMIM:228100
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Cystic Fibrosis
Hypercalciuria, Male infertility, Steatorrhea, Failure to thrive OMIM:219700
Infantile Liver Failure Syndrome 2
Hyperammonemia, Lethargy OMIM:616483
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Lethargy, Overweight, Decreased circulating ACTH level, Decreased circulating... ORPHA:226307
Biotinidase Deficiency
Lethargy, Ataxia, Organic aciduria, Hyperammonemia, Limb muscle weakness ORPHA:79241
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Hypothyroidism, Calcinosis, Finger symphalangism, Small for ... ORPHA:221008
Encephalitis Lethargica
Coma, Lethargy, Urinary incontinence, Stiff neck, Upper limb muscle weakness ORPHA:83600
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Hypernatriuria, Hyponatremia, Abnormal urine potassium concent... ORPHA:275761
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Lethargy, Ataxia OMIM:253260
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Vesicoureteral reflux, Nephroblastoma, Nephrocalcinosis, N... OMIM:130650
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Bone cyst, Weight loss, Arthritis OMIM:181000
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy, Increased urinary glycerol OMIM:229700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Micropenis, Hydronephrosis OMIM:235255
Rothmund-Thomson Syndrome
Infertility, Abnormal trabecular bone morphology, Calcinosis, Reduced bone mineral density, Small... ORPHA:2909
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia... OMIM:613658
Kufor-Rakeb Syndrome
Lethargy, Difficulty walking, Dysphagia, Gait disturbance, Blepharospasm, Bradykinesia, Generaliz... ORPHA:306674
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Ophthalmoplegia, Ataxia OMIM:618321
Muscle weakness, Lethargy, Dysphagia, Excessive daytime somnolence, Reduced consciousness/confusi... ORPHA:863
Ogden Syndrome
Torticollis, Excessive daytime somnolence, Lethargy, Shuffling gait ORPHA:276432
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Micropenis ORPHA:1655
Sotos Syndrome
Craniosynostosis, Renal agenesis, Joint laxity, Hypothyroidism, Flexion contracture, Ankle flexio... ORPHA:821
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital posterior urethral valve OMIM:136140
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Arthritis ORPHA:90363
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Coma, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hyponatremia, Reduc... ORPHA:544482
Double Outlet Right Ventricle
Hypocalcemia, Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:3426
Lassa Fever
Spontaneous abortion, Lethargy, Menometrorrhagia ORPHA:99824
Mitochondrial Complex I Deficiency, Nuclear Type 1
Muscle weakness, Coma, Lethargy, Ataxia, Failure to thrive, Poor head control OMIM:252010
Amoebiasis Due To Free-Living Amoebae
Coma, Lethargy, Intrarenal abscess, Oculomotor nerve palsy, Ataxia, Confusion, Facial palsy, Stif... ORPHA:68
Arthrogryposis Multiplex Congenita 5
Medullary nephrocalcinosis OMIM:618947
Cartilage-Hair Hypoplasia
Hypocalcemia, Limited elbow extension, Abnormal bone ossification, Mucopolysacchariduria, Joint h... ORPHA:175
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Synostosis involving bones of the upper limbs, Calcinosis, F... ORPHA:221016
Lethargy, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal ga... ORPHA:616
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Oculogyric crisis, Torticollis, Limb dystonia, Athetosis OMIM:608643
Cranioectodermal Dysplasia 1
Osteoporosis, Hypocalcemia, Joint laxity, Tubulointerstitial nephritis, Chronic kidney disease, R... OMIM:218330
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Craniofacioskeletal Syndrome
Hypocalcemia, Hydronephrosis, Hypospadias OMIM:300712
Semilobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Abnormality of the endocrine system, Dysphagia, ... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Abnormality of the endocrine system, Dysphagia, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Abnormality of the endocrine system, Dysphagia, ... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Abnormality of the endocrine system, Dysphagia, ... ORPHA:93924
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Hyperbilirubinemia, Elevated circulating thyr... OMIM:218700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Hypospadias, Micropenis ORPHA:163979
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
22Q11.2 Deletion Syndrome
Hypocalcemia, Multiple renal cysts, Renal hypoplasia, Hypothyroidism, Joint hyperflexibility, Hyp... ORPHA:567
Histiocytoid Cardiomyopathy
Lethargy, Drowsiness, Renal cyst, Failure to thrive, Loss of consciousness ORPHA:137675
Digeorge Syndrome
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypothyroidism, Unilateral renal a... OMIM:188400
Hennekam Syndrome
Horseshoe kidney, Hypocalcemia, Ectopic kidney ORPHA:2136
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Charge Syndrome
Hypocalcemia, Horseshoe kidney, Renal hypoplasia, Dysphagia, Hypothyroidism, Aplasia/Hypoplasia o... OMIM:214800
Blackfan-Diamond Anemia
Lethargy, Horseshoe kidney, Renal agenesis, Small for gestational age, Hypospadias ORPHA:124
Velocardiofacial Syndrome
Hypocalcemia, Hypoparathyroidism OMIM:192430
Stiff neck, Lethargy, Atrophic pituitary gland ORPHA:2177
Eisenmenger Syndrome
Muscle weakness, Lethargy, Hyperuricemia, Elevated circulating C-reactive protein concentration, ... ORPHA:97214
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Hypocalcemia, Increased VLDL cholesterol concentration, Hydronephrosis, S... OMIM:243800
Lethargy, Reduced consciousness/confusion ORPHA:251909


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc34a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc34a1.

No publications found that use IMPC mice or data for Slc34a1.

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MGI Allele Allele Type Produced
Slc34a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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